Varaico: Literature-Extracted Genetic Variants

Gene:SH3GL1
Variant:p.V17V

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.V17V
c.51C>T
Surrounding Variants
1 paper
NM_003025.4
p.K38_K39Splc
c.114+9G>C
1 paper
NM_003025.4
p.M70V
c.208A>G
1 paper
NM_003025.4
p.K82E
c.244A>G
2 papers
NM_003025.4
p.G106S
c.316G>A
2 papers
NM_003025.4
p.E107K
c.319G>A
1 paper
NM_003025.4
p.S120Y
c.359C>A
1 paper
NM_003025.4
p.L143fs
c.427_428fs
1 paper
NM_003025.4
p.L143delFs
c.427delG
1 paper
NM_003025.4
p.L143fs
c.427_428fs
1 paper
NM_003025.4
p.K152del1
c.454_456delCTT
1 paper
NM_003025.4
p.R174Q
c.521G>A
1 paper
NM_003025.4
p.P179S
c.535C>T
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