Varaico: Literature-Extracted Genetic Variants

Gene:SGSM3
Variant:p.Q326delFs

SGSM3

56 papers

Pfam Domains

RabGAP-TBCaa 117–325UCSCRab-GTPase-TBC domain
SH3_1aa 486–531UCSCSH3 domain
RUNaa 563–717UCSCRUN domain

Gene Aliases

HGNC Name

small G protein signaling modulator 3

HGNC Previous Symbol

RUTBC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015705.6
p.Q326delFs
c.976_977delCA
Surrounding Variants
2 papers
NM_015705.6
p.S327insFs
c.981dupA
1 paper
NM_015705.6
p.G359V
c.1076G>T
1 paper
NM_015705.6
p.L374M
c.1120C>A
1 paper
NM_015705.6
p.Y376_L377delFs
c.1128_1129delTC
1 paper
NM_015705.6
p.A387T
c.1159G>A
1 paper
NM_015705.6
p.G388S
c.1162G>A
1 paper
NM_015705.6
p.T389S
c.1165A>T
1 paper
NM_015705.6
p.T389S
c.1166C>G
1 paper
NM_015705.6
p.L393delFs
c.1177_1178delCT
1 paper
NM_015705.6
p.L393fs
c.1177_1178fs
1 paper
NM_015705.6
p.K320_E321Splc
c.960+6C>T
1 paper
NM_015705.6
p.V308M
c.922G>A
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