Varaico: Literature-Extracted Genetic Variants

Gene:SH3GLB2

SH3GLB2

21 papers

Pfam Domains

BARaa 5–280UCSCBAR domain
SH3_9aa 342–392UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 domain containing GRB2 like, endophilin B2

HGNC Alias Symbol

KIAA1848

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
1 paper
NM_020145.4
p.K6E
c.16A>G
1 paper
NM_020145.4
p.A19A
c.57G>A
1 paper
NM_020145.4
p.K26T
c.77A>C
1 paper
NM_020145.4
p.D36D
c.108T>C
1 paper
NM_020145.4
p.M98V
c.292A>G
1 paper
NM_020145.4
p.I116I
c.348C>T
1 paper
NM_020145.4
p.I116_V118del0
c.346_354del9
1 paper
NM_020145.4
p.H134Y
c.400C>T
1 paper
NM_020145.4
p.S156A
c.466T>G
1 paper
NM_020145.4
p.P190S
c.568C>T
1 paper
NM_020145.4
p.V223M
c.667G>A
1 paper
NM_020145.4
p.E227delFs
c.680_681delCT
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