Varaico: Literature-Extracted Genetic Variants

Gene:FGD5
Variant:p.L453R

FGD5

122 papers

Pfam Domains

RhoGEFaa 896–1082UCSCRhoGEF domain
PHaa 1114–1207UCSCPH domain
FYVEaa 1238–1302UCSCFYVE zinc finger
PHaa 1365–1461UCSCPH domain

Gene Aliases

HGNC Name

FYVE, RhoGEF and PH domain containing 5

HGNC Alias Symbols

ZFYVE23; FLJ39957; FLJ00274

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152536.4
p.L453R
c.1358T>G
Surrounding Variants
1 paper
NM_152536.4
p.S458L
c.1373C>T
1 paper
NM_152536.4
p.L462_N463delFs
c.1384_1388del5
1 paper
NM_152536.4
p.Q439*
c.1315C>T
1 paper
NM_152536.4
p.L436L
c.1308G>T
1 paper
NM_152536.4
p.G435R
c.1303G>C
1 paper
NM_152536.4
p.P472S
c.1414C>T
1 paper
NM_152536.4
p.A421S
c.1261G>T
1 paper
NM_152536.4
p.V497I
c.1489G>A
1 paper
NM_152536.4
p.A409T
c.1225G>A
1 paper
NM_152536.4
p.E406K
c.1216G>A
1 paper
NM_152536.4
p.A404A
c.1212G>A
1 paper
NM_152536.4
p.A404A
c.1212G>T
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