Varaico: Literature-Extracted Genetic Variants

Gene:SGSM2
Variant:p.A996T

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
Selected Variant
1 paper
NM_014853.3
p.A996T
c.2986G>A
Surrounding Variants
1 paper
NM_014853.3
p.R1004*
c.3010C>T
2 papers
NM_014853.3
p.R1008C
c.3022C>T
1 paper
NM_014853.3
p.N1011T
c.3032A>C
1 paper
NM_014853.3
p.E967Splc
c.2900-31C>T
1 paper
NM_014853.3
p.D1029N
c.3085G>A
1 paper
NM_014853.3
p.I1033I
c.3099C>T
1 paper
NM_014853.3
p.T828_I829Splc
c.2484+1G>C
1 paper
NM_014853.3
p.A820V
c.2459C>T
1 paper
NM_014853.3
p.E738E
c.2214G>A
1 paper
NM_014853.3
p.T734fs
c.2200_2201fs
1 paper
NM_014853.3
p.P732fs
c.2194_2195fs
1 paper
NM_014853.3
p.P732insFs
c.2195dupC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."