Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.R290S

ANKRD30B

96 papers

Pfam Domains

Ank_2aa 42–136UCSCAnkyrin repeats (3 copies)
Ank_2aa 143–235UCSCAnkyrin repeats (3 copies)
CCDC144Caa 1188–1523UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 30B

HGNC Alias Symbol

NY-BR-1.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001367607.2
p.R290S
c.870A>C
Surrounding Variants
1 paper
NM_001367607.2
p.R290S
c.870A>T
1 paper
NM_001367607.2
p.R290K
c.869G>A
1 paper
NM_001367607.2
p.A288T
c.862G>A
2 papers
NM_001367607.2
p.T294M
c.881C>T
1 paper
NM_001367607.2
p.P286L
c.857C>T
1 paper
NM_001367607.2
p.E300fs
c.898_899fs
1 paper
NM_001367607.2
p.T280S
c.838A>T
1 paper
NM_001367607.2
p.P303H
c.908C>A
1 paper
NM_001367607.2
p.S277Y
c.830C>A
1 paper
NM_001367607.2
p.S277F
c.830C>T
1 paper
NM_001367607.2
p.G275R
c.823G>A
1 paper
NM_001367607.2
p.G275R
c.823G>C
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