Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.E523K

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.E523K
c.1567G>A
Surrounding Variants
2 papers
NM_001367607.2
p.E498D
c.1494G>C
2 papers
NM_001367607.2
p.E498D
c.1494G>T
1 paper
NM_001367607.2
p.E498K
c.1492G>A
1 paper
NM_001367607.2
p.P526T
c.1576C>A
1 paper
NM_001367607.2
p.V536L
c.1606G>C
1 paper
NM_001367607.2
p.V536F
c.1606G>T
1 paper
NM_001367607.2
p.P543S
c.1627C>T
1 paper
NM_001367607.2
p.A546V
c.1637C>T
1 paper
NM_001367607.2
p.R556*
c.1666A>T
2 papers
NM_001367607.2
p.G494V
c.1481G>T
1 paper
NM_001367607.2
p.S493Y
c.1478C>A
5 papers
NM_001367607.2
p.R483Q
c.1448G>A
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