Varaico: Literature-Extracted Genetic Variants

Gene:ANKDD1A
Variant:p.C119C

ANKDD1A

42 papers

Pfam Domains

Ank_2aa 19–121UCSCAnkyrin repeats (3 copies)
Ank_2aa 95–189UCSCAnkyrin repeats (3 copies)
Ank_2aa 163–255UCSCAnkyrin repeats (3 copies)
Ank_2aa 237–321UCSCAnkyrin repeats (3 copies)
Ank_2aa 302–384UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and death domain containing 1A

HGNC Alias Symbol

FLJ25870

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182703.6
p.C119C
c.357T>C
Surrounding Variants
1 paper
NM_182703.6
p.Q108fs
c.322_323fs
1 paper
NM_182703.6
p.Q108delFs
c.322delC
1 paper
NM_182703.6
p.F101Y
c.302T>A
1 paper
NM_182703.6
p.N93K
c.279T>A
1 paper
NM_182703.6
p.L140Q
c.419T>A
1 paper
NM_182703.6
p.D149G
c.446A>G
1 paper
NM_182703.6
p.K157R
c.470A>G
1 paper
NM_182703.6
p.E69D
c.207G>C
1 paper
NM_182703.6
p.G59A
c.176G>C
1 paper
NM_182703.6
p.A56A
c.168A>T
1 paper
NM_182703.6
p.T161M
c.482C>T
1 paper
NM_182703.6
p.G182D
c.545G>A
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