Varaico: Literature-Extracted Genetic Variants

Gene:ANKAR
Variant:p.H433R

ANKAR

99 papers

Pfam Domains

Ank_2aa 502–600UCSCAnkyrin repeats (3 copies)
Ank_2aa 584–669UCSCAnkyrin repeats (3 copies)
Armaa 731–771UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

ankyrin and armadillo repeat containing

HGNC Alias Symbol

FLJ25415

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378068.1
p.H433R
c.1298A>G
Surrounding Variants
1 paper
NM_001378068.1
p.P428Q
c.1283C>A
1 paper
NM_001378068.1
p.G420*
c.1258G>T
1 paper
NM_001378068.1
p.T390I
c.1169C>T
1 paper
NM_001378068.1
p.D387Y
c.1159G>T
1 paper
NM_001378068.1
p.D364N
c.1090G>A
1 paper
NM_001378068.1
p.S436Splc
c.1308-5T>A
1 paper
NM_001378068.1
p.W456S
c.1367G>C
1 paper
NM_001378068.1
p.N466K
c.1398T>A
1 paper
NM_001378068.1
p.N466K
c.1398T>G
1 paper
NM_001378068.1
p.L472F
c.1414C>T
1 paper
NM_001378068.1
p.G501A
c.1502G>C
1 paper
NM_001378068.1
p.V506L
c.1516G>C
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