Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.G179_V183delFs

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.G179_V183delFs
c.535_547del13
Surrounding Variants
1 paper
NM_001378120.1
p.G179fs
c.535_536fs
1 paper
NM_001378120.1
p.S174T
c.520T>A
1 paper
NM_001378120.1
p.Y182*
c.546T>A
1 paper
NM_001378120.1
p.Y182*
c.546T>G
1 paper
NM_001378120.1
p.Q184*
c.550C>T
1 paper
NM_001378120.1
p.E185Q
c.553G>C
1 paper
NM_001378120.1
p.P187H
c.560C>A
1 paper
NM_001378120.1
p.Q192*
c.574C>T
1 paper
NM_001378120.1
p.N158D
c.472A>G
4 papers
NM_001378120.1
p.T157fs
c.469_470fs
2 papers
NM_001378120.1
p.R200*
c.598C>T
1 paper
NM_001378120.1
p.R200Q
c.599G>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."