Varaico: Literature-Extracted Genetic Variants

Gene:ANKDD1B
Variant:p.I94fs

ANKDD1B

32 papers

Pfam Domains

Ank_2aa 72–164UCSCAnkyrin repeats (3 copies)
Ank_2aa 157–227UCSCAnkyrin repeats (3 copies)
Ank_2aa 220–298UCSCAnkyrin repeats (3 copies)
Ank_2aa 305–394UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and death domain containing 1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001276713.2
p.I94fs
c.280_281fs
Surrounding Variants
3 papers
NM_001276713.2
p.L87V
c.259C>G
1 paper
NM_001276713.2
p.R102H
c.305G>A
2 papers
NM_001276713.2
p.R102L
c.305G>T
1 paper
NM_001276713.2
p.R111K
c.332G>A
1 paper
NM_001276713.2
p.K122*
c.364A>T
1 paper
NM_001276713.2
p.G15E
c.44G>A
2 papers
NM_001276713.2
p.S169N
c.506G>A
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