Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.E910D

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.E910D
c.2730A>C
Surrounding Variants
1 paper
NM_001367607.2
p.E910D
c.2730A>T
1 paper
NM_001367607.2
p.K890fs
c.2668_2669fs
1 paper
NM_001367607.2
p.P864S
c.2590C>T
1 paper
NM_001367607.2
p.T947P
c.2839A>C
1 paper
NM_001367607.2
p.N845N
c.2535T>C
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