Varaico: Literature-Extracted Genetic Variants

Gene:MBD3L2
Variant:p.G124S

MBD3L2

4 papers

RefSeq Summary

This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided b...

Pfam Domains

MBDaaa 28–98UCSCp55-binding region of Methyl-CpG-binding domain proteins MBD
MBD_Caa 102–193UCSCC-terminal domain of methyl-CpG binding protein 2 and 3

Gene Aliases

HGNC Name

methyl-CpG binding domain protein 3 like 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144614.4
p.G124S
c.370G>A
Surrounding Variants
1 paper
NM_144614.4
p.A130D
c.389C>A
1 paper
NM_144614.4
p.P163L
c.488C>T
1 paper
NM_144614.4
p.Q194Q
c.582G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."