Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.S460*

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.S460*
c.1379C>G
Surrounding Variants
1 paper
NM_001378120.1
p.S460L
c.1379C>T
3 papers
NM_001378120.1
p.R461H
c.1382G>A
1 paper
NM_001378120.1
p.R461P
c.1382G>C
1 paper
NM_001378120.1
p.S456S
c.1368G>T
1 paper
NM_001378120.1
p.S456L
c.1367C>T
1 paper
NM_001378120.1
p.A455E
c.1364C>A
1 paper
NM_001378120.1
p.A455T
c.1363G>A
1 paper
NM_001378120.1
p.E454Q
c.1360G>C
1 paper
NM_001378120.1
p.N471K
c.1413T>A
1 paper
NM_001378120.1
p.N471K
c.1413T>G
1 paper
NM_001378120.1
p.F472S
c.1415T>C
1 paper
NM_001378120.1
p.P475S
c.1423C>T
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