Varaico: Literature-Extracted Genetic Variants

MAB21L2

56 papers

RefSeq Summary

This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural devel...

Pfam Domains

Mab-21aa 62–244UCSCMab-21 protein nucleotidyltransferase domain

Mab-21_Caa 246–344UCSCMab-21 protein HhH/H2TH-like domain

Gene Aliases

HGNC Name

mab-21 like 2

HGNC Previous Names

mab-21 (C. elegans)-like 2; mab-21-like 2 (C. elegans)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006439.5

p.G92C

c.274G>T

Surrounding Variants

1 paper

NM_006439.5

p.G92D

c.275G>A

1 paper

NM_006439.5

p.C97fs

c.289_290fs

1 paper

NM_006439.5

p.A98V

c.293C>T

1 paper

NM_006439.5

p.V76delFs

c.226_227delGT

1 paper

NM_006439.5

p.F74L

c.220T>C

1 paper

NM_006439.5

p.E73K

c.217G>A

1 paper

NM_006439.5

p.W113S

c.338G>C

1 paper

NM_006439.5

p.R62C

c.184C>T

1 paper

NM_006439.5

p.E58K

c.172G>A

1 paper

NM_006439.5

p.S57insFs

c.171dupC

2 papers

NM_006439.5

p.K127*

c.379A>T

1 paper

NM_006439.5

p.I128M

c.384C>G