Varaico: Literature-Extracted Genetic Variants

Gene:FGD5
Variant:p.E146K

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.E146K
c.436G>A
Surrounding Variants
1 paper
NM_152536.4
p.S132N
c.395G>A
1 paper
NM_152536.4
p.S132T
c.395G>C
1 paper
NM_152536.4
p.A128E
c.383C>A
1 paper
NM_152536.4
p.E167K
c.499G>A
1 paper
NM_152536.4
p.Q171*
c.511C>T
2 papers
NM_152536.4
p.P172P
c.516A>T
1 paper
NM_152536.4
p.E118K
c.352G>A
1 paper
NM_152536.4
p.R174S
c.522G>C
1 paper
NM_152536.4
p.R174S
c.522G>T
1 paper
NM_152536.4
p.E175D
c.525G>C
1 paper
NM_152536.4
p.E175D
c.525G>T
1 paper
NM_152536.4
p.C176Y
c.527G>A
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