Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30BL

ANKRD30BL

23 papers

Pfam Domains

Ank_2aa 42–135UCSCAnkyrin repeats (3 copies)
Ank_2aa 129–201UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 30B like

HGNC Previous Symbol

NCRNA00164

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
4 papers
NM_001358416.1
p.V142F
c.424G>T
2 papers
NM_001358416.1
p.A70G
c.209C>G
2 papers
NM_001358416.1
p.L90V
c.268C>G
2 papers
NM_001358416.1
p.E185Q
c.553G>C
1 paper
NM_001358416.1
p.M1L
c.1A>T
1 paper
NM_001358416.1
p.M1V
c.1A>G
1 paper
NM_001358416.1
p.M1L
c.1A>C
1 paper
NM_001358416.1
p.M1insFs
c.1_2insG
1 paper
NM_001358416.1
p.M1_E2insG
c.1_5ins3
1 paper
NM_001358416.1
p.M1T
c.2T>C
1 paper
NM_001358416.1
p.A7T
c.19G>A
1 paper
NM_001358416.1
p.P15L
c.44C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."