Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L3
Variant:p.E247*

MAB21L3

30 papers

Pfam Domains

Mab-21aa 58–248UCSCMab-21 protein nucleotidyltransferase domain
Mab-21_Caa 255–352UCSCMab-21 protein HhH/H2TH-like domain

Gene Aliases

HGNC Name

mab-21 like 3

HGNC Previous Symbol

C1orf161

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152367.3
p.E247*
c.739G>T
Surrounding Variants
1 paper
NM_152367.3
p.V244M
c.730G>A
1 paper
NM_152367.3
p.H233N
c.697C>A
1 paper
NM_152367.3
p.A228V
c.683C>T
1 paper
NM_152367.3
p.N225insFs
c.673_674ins22
1 paper
NM_152367.3
p.F222C
c.665T>G
1 paper
NM_152367.3
p.K220_S221Splc
c.660+1G>T
1 paper
NM_152367.3
p.Q213*
c.637C>T
1 paper
NM_152367.3
p.R209C
c.625C>T
1 paper
NM_152367.3
p.K199N
c.597G>C
1 paper
NM_152367.3
p.K199N
c.597G>T
1 paper
NM_152367.3
p.G161Splc
c.481+1G>C
2 papers
NM_152367.3
p.G161Splc
c.481+1G>T
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