Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.K552R

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.K552R
c.1655A>G
Surrounding Variants
1 paper
NM_001378120.1
p.S550_K552delFs
c.1648_1654del7
1 paper
NM_001378120.1
p.S549G
c.1645A>G
1 paper
NM_001378120.1
p.S548N
c.1643G>A
1 paper
NM_001378120.1
p.G547R
c.1639G>A
1 paper
NM_001378120.1
p.G547R
c.1639G>C
1 paper
NM_001378120.1
p.A546A
c.1638C>T
1 paper
NM_001378120.1
p.S545P
c.1633T>C
1 paper
NM_001378120.1
p.T543I
c.1628C>T
1 paper
NM_001378120.1
p.P536R
c.1607C>G
1 paper
NM_001378120.1
p.N534H
c.1600A>C
1 paper
NM_001378120.1
p.V532I
c.1594G>A
1 paper
NM_001378120.1
p.S573F
c.1718C>T
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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."