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

1–12 of 73 variants

9 papers

NM_006439.5

p.R51G

c.151C>G

8 papers

NM_006439.5

p.R51C

c.151C>T

8 papers

NM_006439.5

p.R51H

c.152G>A

7 papers

NM_006439.5

p.R247Q

c.740G>A

6 papers

NM_006439.5

p.E49K

c.145G>A

5 papers

NM_006439.5

p.Q48fs

c.142_143fs

4 papers

NM_006439.5

p.M1L

c.1A>C

4 papers

NM_006439.5

p.R51L

c.152G>T

4 papers

NM_006439.5

p.Y280*

c.840C>A

4 papers

NM_006439.5

p.Y280*

c.840C>G

2 papers

NM_006439.5

p.F52del1

c.154_155delTTC

2 papers

NM_006439.5

p.K127*

c.379A>T