Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.M675I

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.M675I
c.2025G>C
Surrounding Variants
1 paper
NM_001378120.1
p.M675I
c.2025G>A
1 paper
NM_001378120.1
p.M675I
c.2025G>T
1 paper
NM_001378120.1
p.S677N
c.2030G>A
1 paper
NM_001378120.1
p.V680A
c.2039T>C
1 paper
NM_001378120.1
p.L670_R671delFs
c.2010_2013del4
1 paper
NM_001378120.1
p.L670fs
c.2008_2009fs
1 paper
NM_001378120.1
p.L670V
c.2008C>G
1 paper
NM_001378120.1
p.G684fs
c.2050_2051fs
1 paper
NM_001378120.1
p.L667W
c.2000T>G
1 paper
NM_001378120.1
p.T664M
c.1991C>T
1 paper
NM_001378120.1
p.Q691H
c.2073G>C
1 paper
NM_001378120.1
p.Q691H
c.2073G>T
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