Varaico: Literature-Extracted Genetic Variants

Gene:SGSM2
Variant:p.V541L

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.V541L
c.1621G>C
Surrounding Variants
1 paper
NM_014853.3
p.V541M
c.1621G>A
1 paper
NM_014853.3
p.V541L
c.1621G>T
1 paper
NM_014853.3
p.S542F
c.1625C>T
1 paper
NM_014853.3
p.C533Y
c.1598G>A
1 paper
NM_014853.3
p.L531V
c.1591C>G
1 paper
NM_014853.3
p.S563L
c.1688C>T
1 paper
NM_014853.3
p.V566M
c.1696G>A
1 paper
NM_014853.3
p.I571fs
c.1711_1712fs
1 paper
NM_014853.3
p.P576A
c.1726C>G
1 paper
NM_014853.3
p.G578E
c.1733G>A
1 paper
NM_014853.3
p.K596_N597Splc
c.1788+1G>A
1 paper
NM_014853.3
p.I612_E613delFs
c.1834_1837del4
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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."