Varaico: Literature-Extracted Genetic Variants

Gene:ANKAR
Variant:p.S436Splc

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.S436Splc
c.1308-5T>A
Surrounding Variants
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
1 paper
NM_001378068.1
p.R508K
c.1523G>A
1 paper
NM_001378068.1
p.R519G
c.1555C>G
1 paper
NM_001378068.1
p.R519H
c.1556G>A
2 papers
NM_001378068.1
p.K558R
c.1673A>G
1 paper
NM_001378068.1
p.R563C
c.1687C>T
1 paper
NM_001378068.1
p.H433R
c.1298A>G
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