Varaico: Literature-Extracted Genetic Variants

Gene:SH3GL1
Variant:p.S288del1

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.S288del1
c.862_863delAGA
Surrounding Variants
1 paper
NM_003025.4
p.R290*
c.868C>T
1 paper
NM_003025.4
p.S286_S287del1
c.858_860delGAT
1 paper
NM_003025.4
p.R297L
c.890G>T
1 paper
NM_003025.4
p.R301W
c.901C>T
1 paper
NM_003025.4
p.P304S
c.910C>T
1 paper
NM_003025.4
p.A280T
c.838G>A
1 paper
NM_003025.4
p.C277Y
c.830G>A
1 paper
NM_003025.4
p.E269Q
c.805G>C
1 paper
NM_003025.4
p.S249L
c.746C>T
1 paper
NM_003025.4
p.P304S
c.910C>T
1 paper
NM_003025.4
p.P304L
c.911C>T
1 paper
NM_003025.4
p.P309L
c.926C>T
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