Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L2
Variant:p.R51delFs

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.R51delFs
c.151delC
Surrounding Variants
1 paper
NM_006439.5
p.R51insFs
c.151dupC
1 paper
NM_006439.5
p.R51_F52del2
c.151_155del6
9 papers
NM_006439.5
p.R51G
c.151C>G
8 papers
NM_006439.5
p.R51C
c.151C>T
1 paper
NM_006439.5
p.P50_F52delFs
c.150_156del7
8 papers
NM_006439.5
p.R51H
c.152G>A
4 papers
NM_006439.5
p.R51L
c.152G>T
2 papers
NM_006439.5
p.F52del1
c.154_155delTTC
1 paper
NM_006439.5
p.F52delFs
c.155delT
1 paper
NM_006439.5
p.F52fs
c.154_155fs
6 papers
NM_006439.5
p.E49K
c.145G>A
1 paper
NM_006439.5
p.F52C
c.155T>G
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