Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.N254_P255del2

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.N254_P255del2
c.760_764del6
Surrounding Variants
1 paper
NM_001378120.1
p.S253G
c.757A>G
1 paper
NM_001378120.1
p.P261S
c.781C>T
1 paper
NM_001378120.1
p.P243fs
c.727_728fs
1 paper
NM_001378120.1
p.P243fs
c.727_728fs
3 papers
NM_001378120.1
p.P243delFs
c.728delC
1 paper
NM_001378120.1
p.P265T
c.793C>A
1 paper
NM_001378120.1
p.I266V
c.796A>G
1 paper
NM_001378120.1
p.H267Q
c.801C>A
1 paper
NM_001378120.1
p.H267Q
c.801C>G
1 paper
NM_001378120.1
p.L268V
c.802C>G
1 paper
NM_001378120.1
p.I237V
c.709A>G
1 paper
NM_001378120.1
p.R270K
c.809G>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."