Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.S512F

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.S512F
c.1535C>T
Surrounding Variants
1 paper
NM_001378120.1
p.Y518Y
c.1554C>T
1 paper
NM_001378120.1
p.P522S
c.1564C>T
2 papers
NM_001378120.1
p.I497V
c.1489A>G
1 paper
NM_001378120.1
p.T496I
c.1487C>T
1 paper
NM_001378120.1
p.I529K
c.1586T>A
1 paper
NM_001378120.1
p.I529M
c.1587A>G
1 paper
NM_001378120.1
p.T496del1
c.1486_1487delACA
1 paper
NM_001378120.1
p.V532I
c.1594G>A
1 paper
NM_001378120.1
p.R491T
c.1472G>C
1 paper
NM_001378120.1
p.R491M
c.1472G>T
1 paper
NM_001378120.1
p.N534H
c.1600A>C
1 paper
NM_001378120.1
p.P490A
c.1468C>G
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."