Varaico: Literature-Extracted Genetic Variants

Gene:ANKIB1
Variant:p.A997S

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.A997S
c.2989G>T
Surrounding Variants
1 paper
NM_019004.2
p.Q1000L
c.2999A>T
1 paper
NM_019004.2
p.I1004M
c.3012C>G
1 paper
NM_019004.2
p.K1012R
c.3035A>G
4 papers
NM_019004.2
p.L1016M
c.3046C>A
1 paper
NM_019004.2
p.H978Y
c.2932C>T
1 paper
NM_019004.2
p.N972S
c.2915A>G
1 paper
NM_019004.2
p.N966K
c.2898T>A
1 paper
NM_019004.2
p.N966K
c.2898T>G
1 paper
NM_019004.2
p.T1035S
c.3103A>T
1 paper
NM_019004.2
p.T1035S
c.3104C>G
1 paper
NM_019004.2
p.I1037delFs
c.3109delA
1 paper
NM_019004.2
p.E1050K
c.3148G>A
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