Varaico: Literature-Extracted Genetic Variants

Gene:ANKDD1B
Variant:p.H245R

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
2 papers
NM_001276713.2
p.H245R
c.734A>G
Surrounding Variants
1 paper
NM_001276713.2
p.S248N
c.743G>A
1 paper
NM_001276713.2
p.A256fs
c.766_767fs
1 paper
NM_001276713.2
p.Q257*
c.769C>T
1 paper
NM_001276713.2
p.W258fs
c.772_773fs
1 paper
NM_001276713.2
p.L221P
c.662T>C
2 papers
NM_001276713.2
p.S169N
c.506G>A
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