Varaico: Literature-Extracted Genetic Variants

Gene:FGD6
Variant:p.R493Q

FGD6

101 papers

Pfam Domains

RhoGEFaa 875–1058UCSCRhoGEF domain
PHaa 1090–1183UCSCPH domain
FYVEaa 1218–1282UCSCFYVE zinc finger
PHaa 1334–1428UCSCPH domain

Gene Aliases

HGNC Name

FYVE, RhoGEF and PH domain containing 6

HGNC Alias Symbols

ZFYVE24; FLJ11183

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018351.4
p.R493Q
c.1478G>A
Surrounding Variants
1 paper
NM_018351.4
p.P499insFs
c.1495_1496insA
1 paper
NM_018351.4
p.A506S
c.1516G>T
1 paper
NM_018351.4
p.S523F
c.1568C>T
1 paper
NM_018351.4
p.S523del1
c.1567_1568delAGA
1 paper
NM_018351.4
p.E529D
c.1587A>T
1 paper
NM_018351.4
p.E529D
c.1587A>C
1 paper
NM_018351.4
p.M453V
c.1357A>G
1 paper
NM_018351.4
p.E442*
c.1324G>T
1 paper
NM_018351.4
p.Q547*
c.1639C>T
1 paper
NM_018351.4
p.Q547H
c.1641A>T
1 paper
NM_018351.4
p.Q547H
c.1641A>C
1 paper
NM_018351.4
p.S434S
c.1302T>C
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