Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.N133Splc

MBD5

215 papers

RefSeq Summary

This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically...

Gene Aliases

HGNC Name

methyl-CpG binding domain protein 5

HGNC Alias Symbols

FLJ11113; KIAA1461

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378120.1
p.N133Splc
c.397+1G>A
Surrounding Variants
2 papers
NM_001378120.1
p.N133Splc
c.397+1G>C
1 paper
NM_001378120.1
p.S127fs
c.379_380fs
1 paper
NM_001378120.1
p.S127delFs
c.379delA
2 papers
NM_001378120.1
p.S122F
c.365C>T
1 paper
NM_001378120.1
p.P121fs
c.361_362fs
1 paper
NM_001378120.1
p.P121delFs
c.361_362delCC
1 paper
NM_001378120.1
p.M116V
c.346A>G
1 paper
NM_001378120.1
p.S115R
c.345C>A
1 paper
NM_001378120.1
p.S115R
c.345C>G
1 paper
NM_001378120.1
p.S115R
c.343A>C
2 papers
NM_001378120.1
p.K114fs
c.340_341fs
4 papers
NM_001378120.1
p.K114fs
c.340_341fs
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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."