Varaico: Literature-Extracted Genetic Variants

Gene:EPS15
Variant:p.S746A

EPS15

141 papers

RefSeq Summary

This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged ...

Pfam Domains

EHaa 15–103UCSCEH domain
EHaa 124–222UCSCEH domain
EHaa 257–356UCSCEH domain

Gene Aliases

HGNC Name

epidermal growth factor receptor pathway substrate 15

HGNC Alias Symbols

AF-1P; MLLT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001981.3
p.S746A
c.2236T>G
Surrounding Variants
1 paper
NM_001981.3
p.R740H
c.2219G>A
1 paper
NM_001981.3
p.E736K
c.2206G>A
1 paper
NM_001981.3
p.P773T
c.2317C>A
1 paper
NM_001981.3
p.A707V
c.2120C>T
1 paper
NM_001981.3
p.K793R
c.2378A>G
1 paper
NM_001981.3
p.D798E
c.2394T>G
1 paper
NM_001981.3
p.D798E
c.2394T>A
1 paper
NM_001981.3
p.F800V
c.2398T>G
1 paper
NM_001981.3
p.L802V
c.2404C>G
1 paper
NM_001981.3
p.L802Q
c.2405T>A
1 paper
NM_001981.3
p.N812T
c.2435A>C
9 papers
NM_001981.3
p.I822M
c.2466A>G
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