Varaico: Literature-Extracted Genetic Variants

Gene:SGSM1
Variant:p.L173_L174delFs

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.L173_L174delFs
c.519_520delGT
Surrounding Variants
1 paper
NM_001098497.3
p.D198E
c.594C>A
1 paper
NM_001098497.3
p.D198E
c.594C>G
1 paper
NM_001098497.3
p.S209C
c.626C>G
1 paper
NM_001098497.3
p.H210Q
c.630C>A
1 paper
NM_001098497.3
p.V211M
c.631G>A
1 paper
NM_001098497.3
p.V211V
c.633G>T
1 paper
NM_001098497.3
p.S215L
c.644C>T
1 paper
NM_001098497.3
p.R242H
c.725G>A
1 paper
NM_001098497.3
p.K260R
c.779A>G
1 paper
NM_001098497.3
p.P267_R268Splc
c.801+1G>A
1 paper
NM_001098497.3
p.V148L
c.442G>C
1 paper
NM_001098497.3
p.V148L
c.442G>T
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