Varaico: Literature-Extracted Genetic Variants

Gene:AFTPH
Variant:p.C178R

AFTPH

65 papers

Pfam Domains

Clathrin_bdgaa 698–766UCSCClathrin-binding box of Aftiphilin, vesicle trafficking
Clathrin_bdgaa 698–770UCSCClathrin-binding box of Aftiphilin, vesicle trafficking

Gene Aliases

HGNC Name

aftiphilin

HGNC Alias Symbols

MGC33965; FLJ20080; FLJ23793; Nbla10388

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203437.4
p.C178R
c.532T>C
Surrounding Variants
1 paper
NM_203437.4
p.P176P
c.528T>G
1 paper
NM_203437.4
p.K175R
c.524A>G
1 paper
NM_203437.4
p.V192insFs
c.574_575ins4
1 paper
NM_203437.4
p.V162I
c.484G>A
2 papers
NM_203437.4
p.G196E
c.587G>A
1 paper
NM_203437.4
p.M159V
c.475A>G
1 paper
NM_203437.4
p.D198fs
c.592_593fs
1 paper
NM_203437.4
p.R209Q
c.626G>A
1 paper
NM_203437.4
p.S216G
c.646A>G
1 paper
NM_203437.4
p.S226N
c.677G>A
1 paper
NM_203437.4
p.I125T
c.374T>C
1 paper
NM_203437.4
p.P99H
c.296C>A
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