Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.T622P

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.T622P
c.1864A>C
Surrounding Variants
2 papers
NM_001378120.1
p.N621I
c.1862A>T
1 paper
NM_001378120.1
p.T627P
c.1879A>C
2 papers
NM_001378120.1
p.N629D
c.1885A>G
1 paper
NM_001378120.1
p.P633S
c.1897C>T
2 papers
NM_001378120.1
p.G610S
c.1828G>A
1 paper
NM_001378120.1
p.G637E
c.1910G>A
1 paper
NM_001378120.1
p.G640C
c.1918G>T
1 paper
NM_001378120.1
p.S603N
c.1808G>A
2 papers
NM_001378120.1
p.N592fs
c.1774_1775fs
2 papers
NM_001378120.1
p.Q591E
c.1771C>G
1 paper
NM_001378120.1
p.Q591*
c.1771C>T
3 papers
NM_001378120.1
p.N592delFs
c.1775delA
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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."