Varaico: Literature-Extracted Genetic Variants

Gene:ANKIB1
Variant:p.R229S

ANKIB1

60 papers

Pfam Domains

Ankaa 45–77UCSCAnkyrin repeat
Ank_2aa 112–200UCSCAnkyrin repeats (3 copies)
IBRaa 402–478UCSCIBR domain, a half RING-finger domain
IBR_1aa 514–565UCSCIBR domain
Ariadneaa 596–719UCSCAriadne domain

Gene Aliases

HGNC Name

ankyrin repeat and IBR domain containing 1

HGNC Alias Symbols

DKFZP434A0225; KIAA1386

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019004.2
p.R229S
c.687G>T
Surrounding Variants
2 papers
NM_019004.2
p.R229S
c.687G>C
1 paper
NM_019004.2
p.R222Q
c.665G>A
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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."