Basic Information

PLEKHA1

Full name: pleckstrin homology domain containing A1

Gene type: protein coding

HGNC ID: HGNC:14335

Gene location: 10q26.13

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/59338

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:14335

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001001974.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q9HB21

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q9HB21

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/607772

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=59338

Pathway resources

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
PLEKHA1 nAMD Missense Variant rs1045216 A>G / A>T chr10:122429681 (GRCh38.p13)
PLEKHA1 nAMD Non Coding Transcript Variant rs2280141 T>A / T>C / T>G chr10:122433665 (GRCh38.p13)
PLEKHA1 nAMD Non Coding Transcript Variant rs4752695 G>A / G>C chr10:122435525 (GRCh38.p13)
PLEKHA1 nAMD Non Coding Transcript Variant rs2292627 T>A / T>G chr10:122442149 (GRCh38.p13)
PLEKHA1 AMD Non Coding Transcript Variant rs10510110 T>A / T>C / T>G chr10:122432914 (GRCh38.p13)
PLEKHA1 Intron Variant rs10887149 G>A / G>C chr10:122407488 (GRCh38.p13)
PLEKHA1 Intron Variant rs10887148 C>A chr10:122405700 (GRCh38.p13)
PLEKHA1 AMD Intron Variant rs7084349 G>A / G>T chr10:122385624 (GRCh38.p13)
PLEKHA1 Intron Variant rs10082476 A>C / A>G chr10:122405138 (GRCh38.p13)
PLEKHA1 Intron Variant rs7918867 G>A / G>T chr10:122410150 (GRCh38.p13)
PLEKHA1 Intron Variant rs229262 C>G / C>T chr10:122427198 (GRCh38.p13)
PLEKHA1 AMD Intron Variant rs4146894 C>T chr10:122395865 (GRCh38.p13)
PLEKHA1 AMD Intron Variant rs2421022 A>G / A>T chr10:122404618 (GRCh38.p13)
PLEKHA1 AMD Intron Variant rs2421016 C>T chr10:122407996 (GRCh38.p13)
PLEKHA1 AMD Intron Variant rs2292625 G>A chr10:122426851 (GRCh38.p13)