Varaico: Literature-Extracted Genetic Variants

Gene:AFTPH
Variant:p.E27_F28ins1

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.E27_F28ins1
c.81_82insAAA
Surrounding Variants
2 papers
NM_203437.4
p.G29G
c.87G>C
1 paper
NM_203437.4
p.D22del1
c.64_66delGAT
1 paper
NM_203437.4
p.G41C
c.121G>T
4 papers
NM_203437.4
p.F47L
c.139T>C
4 papers
NM_203437.4
p.F47L
c.141C>A
4 papers
NM_203437.4
p.F47L
c.141C>G
1 paper
NM_203437.4
p.M1K
c.2T>A
1 paper
NM_203437.4
p.H64_M66del3
c.190_197del9
1 paper
NM_203437.4
p.M66I
c.198G>A
1 paper
NM_203437.4
p.M66I
c.198G>C
1 paper
NM_203437.4
p.M66I
c.198G>T
1 paper
NM_203437.4
p.S72L
c.215C>T
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