Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.L730delFs

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.L730delFs
c.2190delG
Surrounding Variants
1 paper
NM_001378120.1
p.L730fs
c.2188_2189fs
1 paper
NM_001378120.1
p.A725G
c.2174C>G
1 paper
NM_001378120.1
p.A725V
c.2174C>T
2 papers
NM_001378120.1
p.A725fs
c.2173_2174fs
1 paper
NM_001378120.1
p.A725S
c.2173G>T
4 papers
NM_001378120.1
p.A725delFs
c.2173delG
1 paper
NM_001378120.1
p.F739delFs
c.2217delT
1 paper
NM_001378120.1
p.F739fs
c.2215_2216fs
1 paper
NM_001378120.1
p.P721L
c.2162C>T
1 paper
NM_001378120.1
p.T740P
c.2218A>C
2 papers
NM_001378120.1
p.I752V
c.2254A>G
1 paper
NM_001378120.1
p.S707A
c.2119T>G
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