Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.L378H

TET1

435 papers

RefSeq Summary

DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) famil...

Pfam Domains

zf-CXXCaa 584–624UCSCCXXC zinc finger domain
Tet_JBPaa 1580–2052UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 1

HGNC Previous Symbol

CXXC6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030625.3
p.L378H
c.1133T>A
Surrounding Variants
1 paper
NM_030625.3
p.P379L
c.1136C>T
1 paper
NM_030625.3
p.W376R
c.1126T>A
1 paper
NM_030625.3
p.W376R
c.1126T>C
1 paper
NM_030625.3
p.D382fs
c.1144_1145fs
1 paper
NM_030625.3
p.D382_P383delFs
c.1146_1147delCC
1 paper
NM_030625.3
p.G366V
c.1097G>T
1 paper
NM_030625.3
p.E391K
c.1171G>A
1 paper
NM_030625.3
p.S363F
c.1088C>T
1 paper
NM_030625.3
p.P399L
c.1196C>T
1 paper
NM_030625.3
p.E357*
c.1069G>T
1 paper
NM_030625.3
p.P403delFs
c.1209delA
1 paper
NM_030625.3
p.V404F
c.1210G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."