Varaico: Literature-Extracted Genetic Variants

Gene:GAPVD1
Variant:p.S186fs

GAPVD1

67 papers

Pfam Domains

RasGAPaa 152–353UCSCGTPase-activator protein for Ras-like GTPase
DUF5601aa 1197–1260UCSCDomain of unknown function (DUF5601)
DUF5601aa 1263–1326UCSCDomain of unknown function (DUF5601)
VPS9aa 1308–1410UCSCVacuolar sorting protein 9 (VPS9) domain

Gene Aliases

HGNC Name

GTPase activating protein and VPS9 domains 1

HGNC Alias Symbols

DKFZP434C212; KIAA1521

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282680.3
p.S186fs
c.556_557fs
Surrounding Variants
1 paper
NM_001282680.3
p.G174*
c.520G>T
2 papers
NM_001282680.3
p.R154*
c.460C>T
1 paper
NM_001282680.3
p.V128L
c.382G>C
1 paper
NM_001282680.3
p.N121I
c.362A>T
1 paper
NM_001282680.3
p.R108H
c.323G>A
1 paper
NM_001282680.3
p.R104T
c.311G>C
1 paper
NM_001282680.3
p.G97E
c.290G>A
3 papers
NM_001282680.3
p.V284M
c.850G>A
1 paper
NM_001282680.3
p.I327T
c.980T>C
1 paper
NM_001282680.3
p.Q349L
c.1046A>T
1 paper
NM_001282680.3
p.T354A
c.1060A>G
1 paper
NM_001282680.3
p.K364M
c.1091A>T
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