Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.P340_Q347del8

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
4 papers
NM_001378120.1
p.P340_Q347del8
c.1018_1040del24
Surrounding Variants
1 paper
NM_001378120.1
p.P340S
c.1018C>T
1 paper
NM_001378120.1
p.Q334P
c.1001A>C
1 paper
NM_001378120.1
p.Q347H
c.1041G>C
1 paper
NM_001378120.1
p.Q347H
c.1041G>T
1 paper
NM_001378120.1
p.H329fs
c.985_986fs
1 paper
NM_001378120.1
p.H329delFs
c.985delC
1 paper
NM_001378120.1
p.M327T
c.980T>C
1 paper
NM_001378120.1
p.A326V
c.977C>T
2 papers
NM_001378120.1
p.R325*
c.973C>T
1 paper
NM_001378120.1
p.S318*
c.953C>A
1 paper
NM_001378120.1
p.S318*
c.953C>G
1 paper
NM_001378120.1
p.S318L
c.953C>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."