Varaico: Literature-Extracted Genetic Variants

Gene:GAPVD1
Variant:p.V586A

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.V586A
c.1757T>C
Surrounding Variants
1 paper
NM_001282680.3
p.S583fs
c.1747_1748fs
1 paper
NM_001282680.3
p.C568*
c.1704C>A
1 paper
NM_001282680.3
p.V535I
c.1603G>A
1 paper
NM_001282680.3
p.R636H
c.1907G>A
2 papers
NM_001282680.3
p.T706S
c.2116A>T
2 papers
NM_001282680.3
p.T706S
c.2117C>G
1 paper
NM_001282680.3
p.L765I
c.2293C>A
1 paper
NM_001282680.3
p.L765F
c.2293C>T
1 paper
NM_001282680.3
p.N780Y
c.2338A>T
1 paper
NM_001282680.3
p.L785V
c.2353C>G
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