Varaico: Literature-Extracted Genetic Variants

Gene:SGSM2
Variant:p.K9N

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.K9N
c.27A>C
Surrounding Variants
1 paper
NM_014853.3
p.K9N
c.27A>T
1 paper
NM_014853.3
p.W14*
c.41G>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."