Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.N158D

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.N158D
c.472A>G
Surrounding Variants
4 papers
NM_001378120.1
p.T157fs
c.469_470fs
1 paper
NM_001378120.1
p.H153fs
c.457_458fs
1 paper
NM_001378120.1
p.S152_H153delFs
c.456_457delTC
2 papers
NM_001378120.1
p.N150_K151del2
c.448_452del6
3 papers
NM_001378120.1
p.S147*
c.440C>A
4 papers
NM_001378120.1
p.S147*
c.440C>G
2 papers
NM_001378120.1
p.T144I
c.431C>T
1 paper
NM_001378120.1
p.A143G
c.428C>G
1 paper
NM_001378120.1
p.S174T
c.520T>A
1 paper
NM_001378120.1
p.P139S
c.415C>T
1 paper
NM_001378120.1
p.G179_V183delFs
c.535_547del13
1 paper
NM_001378120.1
p.G179fs
c.535_536fs
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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."