Varaico: Literature-Extracted Genetic Variants

Gene:SGSM1

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
1–12 of 63 variants
2 papers
NM_001098497.3
p.R588T
c.1763G>C
2 papers
NM_001098497.3
p.A963D
c.2888C>A
1 paper
NM_001098497.3
p.Q24*
c.70C>T
1 paper
NM_001098497.3
p.R60P
c.179G>C
1 paper
NM_001098497.3
p.A61V
c.182C>T
1 paper
NM_001098497.3
p.P83S
c.247C>T
1 paper
NM_001098497.3
p.A101V
c.302C>T
1 paper
NM_001098497.3
p.I105T
c.314T>C
1 paper
NM_001098497.3
p.Q106delFs
c.316delC
1 paper
NM_001098497.3
p.N120S
c.359A>G
1 paper
NM_001098497.3
p.L121S
c.362T>C
1 paper
NM_001098497.3
p.I131delFs
c.391delA
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