Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.Q587del1

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.Q587del1
c.1759_1760delCAG
Surrounding Variants
3 papers
NM_001378120.1
p.Q587*
c.1759C>T
2 papers
NM_001378120.1
p.A586T
c.1756G>A
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
2 papers
NM_001378120.1
p.N592fs
c.1774_1775fs
1 paper
NM_001378120.1
p.S573F
c.1718C>T
1 paper
NM_001378120.1
p.S603N
c.1808G>A
2 papers
NM_001378120.1
p.G610S
c.1828G>A
1 paper
NM_001378120.1
p.K552R
c.1655A>G
2 papers
NM_001378120.1
p.N621I
c.1862A>T
1 paper
NM_001378120.1
p.T622P
c.1864A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."