Varaico: Literature-Extracted Genetic Variants

Gene:SH3GLB1

SH3GLB1

23 papers

RefSeq Summary

This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in re...

Pfam Domains

BARaa 9–254UCSCBAR domain
SH3_9aa 312–362UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 domain containing GRB2 like, endophilin B1

HGNC Alias Symbols

CGI-61; KIAA0491; Bif-1; PPP1R70

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
1 paper
NM_016009.5
p.K10N
c.30G>C
1 paper
NM_016009.5
p.K10N
c.30G>T
1 paper
NM_016009.5
p.V23A
c.68T>C
1 paper
NM_016009.5
p.Q24R
c.71A>G
1 paper
NM_016009.5
p.P71Q
c.212C>A
1 paper
NM_016009.5
p.N93S
c.278A>G
1 paper
NM_016009.5
p.E107Q
c.319G>C
1 paper
NM_016009.5
p.A117T
c.349G>A
1 paper
NM_016009.5
p.C121Y
c.362G>A
1 paper
NM_016009.5
p.S139L
c.416C>T
1 paper
NM_016009.5
p.N142D
c.424A>G
1 paper
NM_016009.5
p.L147delFs
c.440delT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."