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.L257delFs

c.769_770delCT

Surrounding Variants

1 paper

NM_006439.5

p.L257fs

c.769_770fs

1 paper

NM_006439.5

p.S252L

c.755C>T

1 paper

NM_006439.5

p.L251F

c.751C>T

1 paper

NM_006439.5

p.C250*

c.750C>A

7 papers

NM_006439.5

p.R247Q

c.740G>A

1 paper

NM_006439.5

p.G245S

c.733G>A

1 paper

NM_006439.5

p.G244S

c.730G>A

1 paper

NM_006439.5

p.Q233P

c.698A>C

4 papers

NM_006439.5

p.Y280*

c.840C>A

4 papers

NM_006439.5

p.Y280*

c.840C>G

1 paper

NM_006439.5

p.E281K

c.841G>A

1 paper

NM_006439.5

p.K284ins2

c.851_852ins6