Varaico: Literature-Extracted Genetic Variants

Gene:ANKDD1B
Variant:p.V292A

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
3 papers
NM_001276713.2
p.V292A
c.875T>C
Surrounding Variants
1 paper
NM_001276713.2
p.S282F
c.845C>T
1 paper
NM_001276713.2
p.S270C
c.808A>T
1 paper
NM_001276713.2
p.I269fs
c.805_806fs
1 paper
NM_001276713.2
p.I269_S270delFs
c.806_809del4
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