Varaico: Literature-Extracted Genetic Variants

Gene:ANKDD1B
Variant:p.R470H

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.R470H
c.1409G>A
Surrounding Variants
8 papers
NM_001276713.2
p.W480*
c.1439G>A
8 papers
NM_001276713.2
p.W480*
c.1440G>A
1 paper
NM_001276713.2
p.H482Y
c.1444C>T
1 paper
NM_001276713.2
p.K523R
c.1568A>G
2 papers
NM_001276713.2
p.W463*
c.1389G>A
2 papers
NM_001276713.2
p.W463*
c.1388G>A
1 paper
NM_001276713.2
p.Q462*
c.1384C>T
1 paper
NM_001276713.2
p.Q366R
c.1097A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."