Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.Q286L

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.Q286L
c.857A>T
Surrounding Variants
1 paper
NM_001378120.1
p.A290G
c.869C>G
1 paper
NM_001378120.1
p.G282D
c.845G>A
1 paper
NM_001378120.1
p.G282delFs
c.846delT
1 paper
NM_001378120.1
p.R294W
c.880A>T
1 paper
NM_001378120.1
p.R294R
c.882G>A
2 papers
NM_001378120.1
p.I297delFs
c.890_891delTA
1 paper
NM_001378120.1
p.P275P
c.825A>G
2 papers
NM_001378120.1
p.I297fs
c.889_890fs
1 paper
NM_001378120.1
p.R270K
c.809G>A
1 paper
NM_001378120.1
p.T304S
c.910A>T
1 paper
NM_001378120.1
p.T304S
c.911C>G
1 paper
NM_001378120.1
p.L268V
c.802C>G
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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."