Varaico: Literature-Extracted Genetic Variants

Gene:MECP2

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
1–12 of 1924 variants
97 papers
NM_001110792.2
p.R306*
c.916C>T
44 papers
NM_004992.4
p.T158M
c.473C>T
41 papers
NM_001110792.2
p.A152G
c.455C>G
37 papers
NM_004992.4
p.R133C
c.397C>T
37 papers
NM_004992.4
p.R168*
c.502C>T
37 papers
NM_004992.4
p.R306C
c.916C>T
34 papers
NM_004992.4
p.R294*
c.880C>T
33 papers
NM_004992.4
p.R255*
c.763C>T
33 papers
NM_004992.4
p.R270*
c.808C>T
30 papers
NM_001110792.2
p.S80A
c.238T>G
30 papers
NM_004992.4
p.R106W
c.316C>T
27 papers
NM_001110792.2
p.K235delFs
c.705delC
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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."