Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30BL
Variant:p.L90V

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
2 papers
NM_001358416.1
p.L90V
c.268C>G
Surrounding Variants
1 paper
NM_001358416.1
p.D93V
c.278A>T
1 paper
NM_001358416.1
p.E86D
c.258A>T
1 paper
NM_001358416.1
p.D99N
c.295G>A
1 paper
NM_001358416.1
p.N105S
c.314A>G
1 paper
NM_001358416.1
p.T74S
c.220A>T
1 paper
NM_001358416.1
p.T107S
c.319A>T
1 paper
NM_001358416.1
p.A119T
c.355G>A
1 paper
NM_001358416.1
p.A119V
c.356C>T
1 paper
NM_001358416.1
p.I125L
c.373A>T
1 paper
NM_001358416.1
p.T140S
c.418A>T
1 paper
NM_001358416.1
p.T140P
c.418A>C
1 paper
NM_001358416.1
p.A141T
c.421G>A
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