Varaico: Literature-Extracted Genetic Variants

Gene:ANKAR
Variant:p.L1077F

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
4 papers
NM_001378068.1
p.L1077F
c.3231G>C
Surrounding Variants
4 papers
NM_001378068.1
p.L1077F
c.3231G>T
3 papers
NM_001378068.1
p.P1095H
c.3284C>A
1 paper
NM_001378068.1
p.I1064V
c.3190A>G
1 paper
NM_001378068.1
p.A1058S
c.3172G>T
1 paper
NM_001378068.1
p.L1053L
c.3159C>G
1 paper
NM_001378068.1
p.T1046K
c.3137C>A
1 paper
NM_001378068.1
p.V1039A
c.3116T>C
1 paper
NM_001378068.1
p.I1035T
c.3104T>C
1 paper
NM_001378068.1
p.K1020fs
c.3058_3059fs
4 papers
NM_001378068.1
p.K1020_D1021delFs
c.3058_3061del4
1 paper
NM_001378068.1
p.V1015A
c.3044T>C
2 papers
NM_001378068.1
p.M1007delFs
c.3019delA
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