Varaico: Literature-Extracted Genetic Variants

Gene:ANKIB1
Variant:p.R808H

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.R808H
c.2423G>A
Surrounding Variants
1 paper
NM_019004.2
p.S807G
c.2419A>G
1 paper
NM_019004.2
p.S806T
c.2417G>C
1 paper
NM_019004.2
p.S805G
c.2413A>G
1 paper
NM_019004.2
p.S813S
c.2439C>T
1 paper
NM_019004.2
p.Y831S
c.2492A>C
1 paper
NM_019004.2
p.T832P
c.2494A>C
1 paper
NM_019004.2
p.L879L
c.2637C>T
1 paper
NM_019004.2
p.R901G
c.2701A>G
1 paper
NM_019004.2
p.R907R
c.2721G>T
1 paper
NM_019004.2
p.L916V
c.2746T>G
1 paper
NM_019004.2
p.S939T
c.2815T>A
1 paper
NM_019004.2
p.S939A
c.2815T>G
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