Varaico: Literature-Extracted Genetic Variants

Gene:AFTPH
Variant:p.E350G

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
2 papers
NM_203437.4
p.E350G
c.1049A>G
Surrounding Variants
1 paper
NM_203437.4
p.R349K
c.1046G>A
1 paper
NM_203437.4
p.D359Y
c.1075G>T
1 paper
NM_203437.4
p.T362I
c.1085C>T
1 paper
NM_203437.4
p.T319K
c.956C>A
1 paper
NM_203437.4
p.S382A
c.1144T>G
1 paper
NM_203437.4
p.R388*
c.1162A>T
3 papers
NM_203437.4
p.E301K
c.901G>A
1 paper
NM_203437.4
p.V297I
c.889G>A
1 paper
NM_203437.4
p.L406F
c.1218G>C
1 paper
NM_203437.4
p.L406F
c.1218G>T
1 paper
NM_203437.4
p.S409F
c.1226C>T
1 paper
NM_203437.4
p.K288R
c.863A>G
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