Varaico: Literature-Extracted Genetic Variants

Gene:SGSM1
Variant:p.G582W

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.G582W
c.1744G>T
Surrounding Variants
2 papers
NM_001098497.3
p.R588T
c.1763G>C
1 paper
NM_001098497.3
p.T547_S548Splc
c.1641+11G>T
1 paper
NM_001098497.3
p.R537W
c.1609A>T
1 paper
NM_001098497.3
p.H519_M520del2
c.1555_1559del6
1 paper
NM_001098497.3
p.W499C
c.1497G>T
1 paper
NM_001098497.3
p.Q594P
c.1781A>C
1 paper
NM_001098497.3
p.E651_S652Splc
c.1953+2T>C
1 paper
NM_001098497.3
p.W499C
c.1497G>C
1 paper
NM_001098497.3
p.W499C
c.1497G>T
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