Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L2
Variant:p.A4T

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.A4T
c.10G>A
Surrounding Variants
1 paper
NM_006439.5
p.M1T
c.2T>C
4 papers
NM_006439.5
p.M1L
c.1A>C
1 paper
NM_006439.5
p.M1L
c.1A>T
1 paper
NM_006439.5
p.N13S
c.38A>G
1 paper
NM_006439.5
p.T17_E18delFs
c.51_52delTG
1 paper
NM_006439.5
p.C20delFs
c.58delT
1 paper
NM_006439.5
p.C20fs
c.58_59fs
1 paper
NM_006439.5
p.A25V
c.74C>T
1 paper
NM_006439.5
p.V37fs
c.109_110fs
1 paper
NM_006439.5
p.V37A
c.110T>C
1 paper
NM_006439.5
p.S39S
c.117G>A
1 paper
NM_006439.5
p.D40D
c.120C>T
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