Varaico: Literature-Extracted Genetic Variants

Gene:ANKAR
Variant:p.R716*

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.R716*
c.2146C>T
Surrounding Variants
1 paper
NM_001378068.1
p.P697fs
c.2089_2090fs
1 paper
NM_001378068.1
p.P697delFs
c.2089delC
3 papers
NM_001378068.1
p.I675V
c.2023A>G
1 paper
NM_001378068.1
p.A647T
c.1939G>A
2 papers
NM_001378068.1
p.C623Y
c.1868G>A
1 paper
NM_001378068.1
p.V616I
c.1846G>A
1 paper
NM_001378068.1
p.P606P
c.1818G>A
1 paper
NM_001378068.1
p.G603R
c.1807G>C
1 paper
NM_001378068.1
p.C760G
c.2278T>G
1 paper
NM_001378068.1
p.L765*
c.2294T>A
1 paper
NM_001378068.1
p.L765*
c.2294T>G
1 paper
NM_001378068.1
p.L779L
c.2337G>A
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