Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.S38Splc

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.S38Splc
c.114-13A>G
Surrounding Variants
1 paper
NM_001378120.1
p.S40G
c.118A>G
5 papers
NM_001378120.1
p.V50delFs
c.150delT
2 papers
NM_001378120.1
p.V50_K51delFs
c.150_151delTA
1 paper
NM_001378120.1
p.K51fs
c.151_152fs
4 papers
NM_001378120.1
p.T52fs
c.154_155fs
1 paper
NM_001378120.1
p.C60*
c.180C>A
1 paper
NM_001378120.1
p.C66_L70del5
c.196_209del15
3 papers
NM_001378120.1
p.K72_V73Splc
c.217-1G>C
1 paper
NM_001378120.1
p.P78T
c.232C>A
6 papers
NM_001378120.1
p.G79E
c.236G>A
1 paper
NM_001378120.1
p.A81G
c.242C>G
6 papers
NM_001378120.1
p.R85delFs
c.254_255delGA
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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."