Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R270fs

MECP2

1,097 papers

RefSeq Summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear prot...

Pfam Domains

MBDaa 91–162UCSCMethyl-CpG binding domain

Gene Aliases

HGNC Name

methyl-CpG binding protein 2

HGNC Previous Symbols

RTT; MRX16; MRX79

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_004992.4
p.R270fs
c.808_809fs
NM_001110792.2
p.R282fs
c.844_845fs
Surrounding Variants
51 papers
NM_004992.4
p.R270*
c.808C>T
NM_001110792.2
p.R282*
c.844C>T
1 paper
NM_001110792.2
p.R282Q
c.845G>A
6 papers
NM_004992.4
p.R270delFs
c.808delG
NM_001110792.2
p.G269delFs
c.807delG
4 papers
NM_001110792.2
p.G281G
c.843C>T
1 paper
NM_001110792.2
p.G281insFs
c.842dupG
6 papers
NM_004992.4
p.G269fs
c.805_806fs
NM_001110792.2
p.G281fs
c.841_842fs
20 papers
NM_004992.4
p.G269delFs
c.806delC
NM_001110792.2
p.G281delFs
c.842delC
1 paper
NM_004992.4
p.G269A
c.806G>C
1 paper
NM_001110792.2
p.R282R
c.846A>T
1 paper
NM_004992.4
p.R270R
c.810A>G
2 papers
NM_004992.4
p.R270fs
c.808_809fs
NM_001110792.2
p.R282fs
c.844_845fs
1 paper
NM_001110792.2
p.G281S
c.841G>A
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