Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.H152L

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.H152L
c.455A>T
Surrounding Variants
1 paper
NM_030625.3
p.H152delins
c.455_456delinsTG
1 paper
NM_030625.3
p.K151insFs
c.451_452insT
1 paper
NM_030625.3
p.K151fs
c.451_452fs
1 paper
NM_030625.3
p.S157S
c.471G>A
1 paper
NM_030625.3
p.P159P
c.477A>G
1 paper
NM_030625.3
p.L145F
c.433C>T
22 papers
NM_030625.3
p.D162G
c.485A>G
1 paper
NM_030625.3
p.Y142H
c.424T>C
1 paper
NM_030625.3
p.D139N
c.415G>A
1 paper
NM_030625.3
p.K136K
c.408G>A
1 paper
NM_030625.3
p.E170D
c.510G>C
1 paper
NM_030625.3
p.E170D
c.510G>T
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