Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B

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
1–12 of 219 variants
5 papers
NM_001367607.2
p.R483Q
c.1448G>A
5 papers
NM_001367607.2
p.T736A
c.2206A>G
5 papers
NM_001367607.2
p.K977K
c.2931G>A
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
2 papers
NM_001367607.2
p.T294M
c.881C>T
2 papers
NM_001367607.2
p.S351L
c.1052C>T
2 papers
NM_001367607.2
p.G494V
c.1481G>T
2 papers
NM_001367607.2
p.E498D
c.1494G>C
2 papers
NM_001367607.2
p.E498D
c.1494G>T
2 papers
NM_001367607.2
p.S991L
c.2972C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."