Varaico: Literature-Extracted Genetic Variants

Gene:ANKIB1
Variant:p.A104S

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
1 paper
NM_019004.2
p.A104S
c.310G>T
Surrounding Variants
1 paper
NM_019004.2
p.P106P
c.318C>A
1 paper
NM_019004.2
p.E96G
c.287A>G
1 paper
NM_019004.2
p.Q130H
c.390G>C
1 paper
NM_019004.2
p.Q130H
c.390G>T
1 paper
NM_019004.2
p.N146delFs
c.437delA
2 papers
NM_019004.2
p.K144fs
c.430_431fs
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