Varaico: Literature-Extracted Genetic Variants

Gene:SH3GL1
Variant:p.M1_S2insFs

SH3GL1

52 papers

RefSeq Summary

This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpress...

Pfam Domains

BARaa 6–242UCSCBAR domain
SH3_1aa 312–357UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 domain containing GRB2 like 1, endophilin A2

HGNC Alias Symbols

SH3P8; SH3D2B; CNSA1; EEN; MGC111371

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003025.4
p.M1_S2insFs
c.3_4insA
Surrounding Variants
1 paper
NM_003025.4
p.M1K
c.2T>A
1 paper
NM_003025.4
p.G5R
c.13G>C
1 paper
NM_003025.4
p.G5R
c.13G>A
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