Varaico: Literature-Extracted Genetic Variants

Gene:ANKAR
Variant:p.L765*

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.L765*
c.2294T>G
Surrounding Variants
1 paper
NM_001378068.1
p.L765*
c.2294T>A
1 paper
NM_001378068.1
p.C760G
c.2278T>G
1 paper
NM_001378068.1
p.L779L
c.2337G>A
1 paper
NM_001378068.1
p.E781K
c.2341G>A
1 paper
NM_001378068.1
p.R802H
c.2405G>A
1 paper
NM_001378068.1
p.I810I
c.2430T>C
2 papers
NM_001378068.1
p.I829M
c.2487A>G
1 paper
NM_001378068.1
p.E855*
c.2563G>T
1 paper
NM_001378068.1
p.Q900E
c.2698C>G
1 paper
NM_001378068.1
p.D901Y
c.2701G>T
1 paper
NM_001378068.1
p.A914T
c.2740G>A
1 paper
NM_001378068.1
p.A914G
c.2741C>G
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