Varaico: Literature-Extracted Genetic Variants

Gene:SGSM2
Variant:p.P732insFs

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.P732insFs
c.2195dupC
Surrounding Variants
1 paper
NM_014853.3
p.T731insFs
c.2192_2193insAG
1 paper
NM_014853.3
p.P732fs
c.2194_2195fs
1 paper
NM_014853.3
p.T734fs
c.2200_2201fs
1 paper
NM_014853.3
p.E738E
c.2214G>A
1 paper
NM_014853.3
p.A820V
c.2459C>T
1 paper
NM_014853.3
p.T828_I829Splc
c.2484+1G>C
1 paper
NM_014853.3
p.R693Q
c.2078G>A
1 paper
NM_014853.3
p.S678F
c.2033C>T
1 paper
NM_014853.3
p.C658fs
c.1972_1973fs
1 paper
NM_014853.3
p.A657_C658delFs
c.1969_1972del4
1 paper
NM_014853.3
p.I612_E613delFs
c.1834_1837del4
1 paper
NM_014853.3
p.K596_N597Splc
c.1788+1G>A
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