Varaico: Literature-Extracted Genetic Variants

Gene:GAPVD1
Variant:p.Q1147*

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.Q1147*
c.3439C>T
Surrounding Variants
1 paper
NM_001282680.3
p.I1140M
c.3420T>G
1 paper
NM_001282680.3
p.D1156Y
c.3466G>T
1 paper
NM_015635.4
p.D1201_N1202insCT
c.3601_3605ins6
1 paper
NM_001282680.3
p.A1113V
c.3338C>T
2 papers
NM_001282680.3
p.P1092L
c.3275C>T
3 papers
NM_001282680.3
p.A1086V
c.3257C>T
1 paper
NM_001282680.3
p.A1065V
c.3194C>T
1 paper
NM_001282680.3
p.E1214Q
c.3640G>C
1 paper
NM_001282680.3
p.T1258T
c.3774C>T
1 paper
NM_001282680.3
p.A1259T
c.3775G>A
2 papers
NM_001282680.3
p.A1260D
c.3779C>A
1 paper
NM_001282680.3
p.P1314H
c.3941C>A
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