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.K43fs

c.127_128fs

Surrounding Variants

1 paper

NM_006439.5

p.D40D

c.120C>T

1 paper

NM_006439.5

p.S39S

c.117G>A

1 paper

NM_006439.5

p.V47_R51delFs

c.141_153del13

1 paper

NM_006439.5

p.Q48*

c.142C>T

5 papers

NM_006439.5

p.Q48fs

c.142_143fs

1 paper

NM_006439.5

p.V37A

c.110T>C

6 papers

NM_006439.5

p.E49K

c.145G>A

1 paper

NM_006439.5

p.V37fs

c.109_110fs

1 paper

NM_006439.5

p.P50_F52delFs

c.150_156del7

1 paper

NM_006439.5

p.R51insFs

c.151dupC

1 paper

NM_006439.5

p.R51delFs

c.151delC

1 paper

NM_006439.5

p.R51_F52del2

c.151_155del6