Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.K628R

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.K628R
c.1883A>G
Surrounding Variants
1 paper
NM_030625.3
p.P631T
c.1891C>A
1 paper
NM_030625.3
p.P631R
c.1892C>G
1 paper
NM_030625.3
p.R622S
c.1866A>T
1 paper
NM_030625.3
p.R622T
c.1865G>C
1 paper
NM_030625.3
p.V635del1
c.1903_1904delGTG
1 paper
NM_030625.3
p.E638_V639Splc
c.1914+1G>A
1 paper
NM_030625.3
p.C603S
c.1808G>C
1 paper
NM_030625.3
p.C603S
c.1807T>A
1 paper
NM_030625.3
p.Q599R
c.1796A>G
1 paper
NM_030625.3
p.Q598K
c.1792C>A
1 paper
NM_030625.3
p.C591S
c.1772G>C
1 paper
NM_030625.3
p.C591S
c.1771T>A
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