Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.G804R

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.G804R
c.2410G>A
Surrounding Variants
1 paper
NM_001378120.1
p.G804R
c.2410G>C
1 paper
NM_001378120.1
p.Q813K
c.2437C>A
1 paper
NM_001378120.1
p.C793fs
c.2377_2378fs
1 paper
NM_001378120.1
p.N792_C793insFs
c.2376_2377ins5
1 paper
NM_001378120.1
p.N792insFs
c.2375_2376insG
1 paper
NM_001378120.1
p.N792S
c.2375A>G
1 paper
NM_001378120.1
p.N792fs
c.2374_2375fs
1 paper
NM_001378120.1
p.S771N
c.2312G>A
1 paper
NM_001378120.1
p.N767fs
c.2299_2300fs
1 paper
NM_001378120.1
p.T766delFs
c.2297delC
1 paper
NM_001378120.1
p.T766fs
c.2296_2297fs
1 paper
NM_001378120.1
p.G840Splc
c.2518+6G>A
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