Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.R491M

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.R491M
c.1472G>T
Surrounding Variants
1 paper
NM_001378120.1
p.R491T
c.1472G>C
1 paper
NM_001378120.1
p.P490A
c.1468C>G
1 paper
NM_001378120.1
p.T496del1
c.1486_1487delACA
1 paper
NM_001378120.1
p.T496I
c.1487C>T
1 paper
NM_001378120.1
p.I486V
c.1456A>G
2 papers
NM_001378120.1
p.I497V
c.1489A>G
1 paper
NM_001378120.1
p.S483C
c.1448C>G
1 paper
NM_001378120.1
p.P476L
c.1427C>T
1 paper
NM_001378120.1
p.P475L
c.1424C>T
1 paper
NM_001378120.1
p.P475S
c.1423C>T
1 paper
NM_001378120.1
p.F472S
c.1415T>C
1 paper
NM_001378120.1
p.N471K
c.1413T>A
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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."