Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30BL
Variant:p.H172L

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
Selected Variant
1 paper
NM_001358416.1
p.H172L
c.515A>T
Surrounding Variants
1 paper
NM_001358416.1
p.A178V
c.533C>T
1 paper
NM_001358416.1
p.R180W
c.538A>T
1 paper
NM_001358416.1
p.E184K
c.550G>A
2 papers
NM_001358416.1
p.E185Q
c.553G>C
1 paper
NM_001358416.1
p.A195T
c.583G>A
1 paper
NM_001358416.1
p.I164V
c.490A>G
1 paper
NM_001358416.1
p.A162T
c.484G>A
1 paper
NM_001358416.1
p.S159F
c.476C>T
1 paper
NM_001358416.1
p.K156N
c.468A>T
1 paper
NM_001358416.1
p.K156R
c.467A>G
1 paper
NM_001358416.1
p.A155A
c.465A>T
1 paper
NM_001358416.1
p.V154L
c.460G>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."