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.S156N

c.467G>A

Surrounding Variants

1 paper

NM_006439.5

p.R163W

c.487A>T

1 paper

NM_006439.5

p.K150_S156del7

c.448_467del21

1 paper

NM_006439.5

p.V168L

c.502G>C

1 paper

NM_006439.5

p.D141_A153del13

c.421_458del39

1 paper

NM_006439.5

p.F174L

c.520T>C

1 paper

NM_006439.5

p.F174L

c.522C>A

1 paper

NM_006439.5

p.F174L

c.522C>G

1 paper

NM_006439.5

p.T177A

c.529A>G

1 paper

NM_006439.5

p.T134M

c.401C>T

1 paper

NM_006439.5

p.Q133P

c.398A>C

1 paper

NM_006439.5

p.I128M

c.384C>G

2 papers

NM_006439.5

p.K127*

c.379A>T