Varaico: Literature-Extracted Genetic Variants

Gene:SGSM2

SGSM2

57 papers

RefSeq Summary

The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GT...

Pfam Domains

RUNaa 42–189UCSCRUN domain
PH_RBDaa 257–392UCSCRab-binding domain (RBD)
RabGAP-TBCaa 781–962UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

small G protein signaling modulator 2

HGNC Previous Symbol

RUTBC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
7 papers
NM_014853.3
p.Y416C
c.1247A>G
3 papers
NM_014853.3
p.R374Q
c.1121G>A
2 papers
NM_014853.3
p.R1008C
c.3022C>T
1 paper
NM_014853.3
p.K9N
c.27A>C
1 paper
NM_014853.3
p.K9N
c.27A>T
1 paper
NM_014853.3
p.W14*
c.41G>A
1 paper
NM_014853.3
p.R58C
c.172C>T
1 paper
NM_014853.3
p.A60S
c.178G>T
1 paper
NM_014853.3
p.G61A
c.182G>C
1 paper
NM_014853.3
p.D66A
c.197A>C
1 paper
NM_014853.3
p.A69E
c.206C>A
1 paper
NM_014853.3
p.C79S
c.235T>A
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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."