Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30BL
Variant:p.M1insFs

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.M1insFs
c.1_2insG
Surrounding Variants
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.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
1 paper
NM_001358416.1
p.D30N
c.88G>A
1 paper
NM_001358416.1
p.D30V
c.89A>T
1 paper
NM_001358416.1
p.D30G
c.89A>G
1 paper
NM_001358416.1
p.R40R
c.120G>A
1 paper
NM_001358416.1
p.A45A
c.135T>A
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