Varaico: Literature-Extracted Genetic Variants

Gene:AFTPH
Variant:p.G534V

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.G534V
c.1601G>T
Surrounding Variants
1 paper
NM_203437.4
p.N550Y
c.1648A>T
3 papers
NM_203437.4
p.N550S
c.1649A>G
1 paper
NM_203437.4
p.S518N
c.1553G>A
1 paper
NM_203437.4
p.N573S
c.1718A>G
1 paper
NM_203437.4
p.T493T
c.1479A>T
1 paper
NM_203437.4
p.Q579fs
c.1735_1736fs
1 paper
NM_203437.4
p.N485S
c.1454A>G
1 paper
NM_203437.4
p.D483Y
c.1447G>T
1 paper
NM_203437.4
p.A586G
c.1757C>G
1 paper
NM_203437.4
p.G482W
c.1444G>T
2 papers
NM_203437.4
p.R599Q
c.1796G>A
1 paper
NM_203437.4
p.H467Y
c.1399C>T
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