Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.K624*

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.K624*
c.1870A>T
Surrounding Variants
1 paper
NM_001367607.2
p.V625D
c.1874T>A
1 paper
NM_001367607.2
p.V625A
c.1874T>C
1 paper
NM_001367607.2
p.K669K
c.2007G>A
1 paper
NM_001367607.2
p.D680N
c.2038G>A
1 paper
NM_001367607.2
p.N681S
c.2042A>G
1 paper
NM_001367607.2
p.K606N
c.1818A>C
1 paper
NM_001367607.2
p.K606N
c.1818A>T
1 paper
NM_001367607.2
p.G605R
c.1813G>A
1 paper
NM_001367607.2
p.G605R
c.1813G>C
1 paper
NM_001367607.2
p.E599*
c.1795G>T
1 paper
NM_001367607.2
p.K598R
c.1793A>G
1 paper
NM_001367607.2
p.Q597E
c.1789C>G
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