Varaico: Literature-Extracted Genetic Variants

Gene:SGSM1
Variant:p.V332A

SGSM1

53 papers

Pfam Domains

RUNaa 44–188UCSCRUN domain
PH_RBDaa 255–391UCSCRab-binding domain (RBD)
RabGAP-TBCaa 851–1044UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

small G protein signaling modulator 1

HGNC Previous Symbol

RUTBC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001098497.3
p.V332A
c.995T>C
Surrounding Variants
1 paper
NM_001098497.3
p.V332A
c.995T>C
1 paper
NM_001098497.3
p.G335G
c.1005C>T
1 paper
NM_001098497.3
p.I346T
c.1037T>C
1 paper
NM_001098497.3
p.P349L
c.1046C>T
1 paper
NM_001098497.3
p.D377fs
c.1129_1130fs
1 paper
NM_001098497.3
p.D377insFs
c.1130_1131insC
1 paper
NM_001098497.3
p.G385D
c.1154G>A
1 paper
NM_001098497.3
p.Y423F
c.1268A>T
1 paper
NM_001098497.3
p.T283A
c.847A>G
1 paper
NM_001098497.3
p.Q433*
c.1297C>T
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