Varaico: Literature-Extracted Genetic Variants

Gene:SH3GL2

SH3GL2

59 papers

Pfam Domains

BARaa 6–242UCSCBAR domain
SH3_2aa 294–347UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 domain containing GRB2 like 2, endophilin A1

HGNC Alias Symbols

SH3P4; SH3D2A; CNSA2; EEN-B1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
7 papers
NM_003026.5
p.G276V
c.827G>T
2 papers
NM_003026.5
p.S75A
c.223T>G
2 papers
NM_003026.5
p.E304A
c.911A>C
1 paper
NM_003026.5
p.K12I
c.35A>T
1 paper
NM_003026.5
p.T14A
c.40A>G
1 paper
NM_003026.5
p.Q15_K16Splc
c.45+74483G>A
1 paper
NM_003026.5
p.Q15_K16Splc
c.46-59315G>A
1 paper
NM_003026.5
p.Q15_K16Splc
c.46-51471G>A
1 paper
NM_003026.5
p.G22*
c.64G>T
1 paper
NM_003026.5
p.K39K
c.117A>G
1 paper
NM_003026.5
p.V47V
c.141G>A
1 paper
NM_003026.5
p.A63S
c.187G>T
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