Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.V426I

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.V426I
c.1276G>A
Surrounding Variants
1 paper
NM_001378120.1
p.R425K
c.1274G>A
1 paper
NM_001378120.1
p.R425*
c.1273A>T
1 paper
NM_001378120.1
p.Q424L
c.1271A>T
1 paper
NM_001378120.1
p.S435F
c.1304C>T
1 paper
NM_001378120.1
p.P436A
c.1306C>G
1 paper
NM_001378120.1
p.H416Y
c.1246C>T
1 paper
NM_001378120.1
p.P442P
c.1326C>A
3 papers
NM_001378120.1
p.V443M
c.1327G>A
1 paper
NM_001378120.1
p.V443fs
c.1327_1328fs
1 paper
NM_001378120.1
p.P408P
c.1224A>T
1 paper
NM_001378120.1
p.E454Q
c.1360G>C
1 paper
NM_001378120.1
p.A455T
c.1363G>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."