Varaico: Literature-Extracted Genetic Variants

Gene:GAPVD1
Variant:p.H812R

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.H812R
c.2435A>G
Surrounding Variants
1 paper
NM_001282680.3
p.Q820R
c.2459A>G
1 paper
NM_001282680.3
p.E835*
c.2503G>T
1 paper
NM_001282680.3
p.P857A
c.2569C>G
1 paper
NM_015635.4
p.R937Q
c.2810G>A
1 paper
NM_001282680.3
p.W918G
c.2752T>G
1 paper
NM_001282680.3
p.E928*
c.2782G>T
1 paper
NM_001282680.3
p.A934V
c.2801C>T
1 paper
NM_001282680.3
p.S950F
c.2849C>T
1 paper
NM_001282680.3
p.S955F
c.2864C>T
1 paper
NM_001282680.3
p.S971L
c.2912C>T
2 papers
NM_001282680.3
p.S984delFs
c.2950delT
1 paper
NM_001282680.3
p.S984*
c.2951C>A
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