Varaico: Literature-Extracted Genetic Variants

Gene:SGSM1
Variant:p.Q594P

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.Q594P
c.1781A>C
Surrounding Variants
1 paper
NM_001098497.3
p.E651_S652Splc
c.1953+2T>C
1 paper
NM_001098497.3
p.V704L
c.2110G>C
1 paper
NM_001098497.3
p.V704L
c.2110G>T
1 paper
NM_001098497.3
p.S712L
c.2135C>T
1 paper
NM_001098497.3
p.P715S
c.2143C>T
1 paper
NM_001098497.3
p.W817*
c.2450G>A
1 paper
NM_001098497.3
p.W817*
c.2451G>A
1 paper
NM_001039948.4
p.E886fs
c.2656_2657fs
1 paper
NM_001098497.3
p.V867I
c.2599G>A
2 papers
NM_001098497.3
p.R588T
c.1763G>C
1 paper
NM_001098497.3
p.G582W
c.1744G>T
1 paper
NM_001098497.3
p.K905K
c.2715G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."