Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.A449T

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.A449T
c.1345G>A
Surrounding Variants
1 paper
NM_001367607.2
p.P457S
c.1369C>T
1 paper
NM_001367607.2
p.D458H
c.1372G>C
1 paper
NM_001367607.2
p.D474Splc
c.1421-1G>A
1 paper
NM_001367607.2
p.D474V
c.1421A>T
4 papers
NM_001367607.2
p.F477L
c.1429T>C
4 papers
NM_001367607.2
p.F477L
c.1431C>A
4 papers
NM_001367607.2
p.F477L
c.1431C>G
5 papers
NM_001367607.2
p.R483Q
c.1448G>A
1 paper
NM_001367607.2
p.S493Y
c.1478C>A
2 papers
NM_001367607.2
p.G494V
c.1481G>T
1 paper
NM_001367607.2
p.E498K
c.1492G>A
2 papers
NM_001367607.2
p.E498D
c.1494G>C
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