Varaico: Literature-Extracted Genetic Variants

Gene:GAPVD1
Variant:p.T416fs

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
2 papers
NM_001282680.3
p.T416fs
c.1246_1247fs
Surrounding Variants
2 papers
NM_001282680.3
p.I415insFs
c.1243_1244dupAT
1 paper
NM_001282680.3
p.L414V
c.1240C>G
1 paper
NM_001282680.3
p.L417_V418Splc
c.1251+7G>A
1 paper
NM_001282680.3
p.G401insFs
c.1201_1202insCT
1 paper
NM_001282680.3
p.R386H
c.1157G>A
1 paper
NM_001282680.3
p.V418E
c.1253T>A
1 paper
NM_001282680.3
p.P463H
c.1388C>A
1 paper
NM_001282680.3
p.K364M
c.1091A>T
1 paper
NM_001282680.3
p.T354A
c.1060A>G
1 paper
NM_001282680.3
p.Q349L
c.1046A>T
1 paper
NM_001282680.3
p.I327T
c.980T>C
3 papers
NM_001282680.3
p.V284M
c.850G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."