Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.S383*

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.S383*
c.1148C>A
Surrounding Variants
1 paper
NM_001378120.1
p.S387delFs
c.1160delC
1 paper
NM_001378120.1
p.T379S
c.1135A>T
1 paper
NM_001378120.1
p.Q388R
c.1163A>G
2 papers
NM_001378120.1
p.M391V
c.1171A>G
2 papers
NM_001378120.1
p.V374I
c.1120G>A
2 papers
NM_001378120.1
p.Q371E
c.1111C>G
1 paper
NM_001378120.1
p.M396delFs
c.1188delG
1 paper
NM_001378120.1
p.D362G
c.1085A>G
1 paper
NM_001378120.1
p.P408P
c.1224A>T
1 paper
NM_001378120.1
p.H416Y
c.1246C>T
1 paper
NM_001378120.1
p.Q347H
c.1041G>C
1 paper
NM_001378120.1
p.Q347H
c.1041G>T
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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."