Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.E1932Q

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.E1932Q
c.5794G>C
Surrounding Variants
1 paper
NM_030625.3
p.P1933L
c.5798C>T
1 paper
NM_030625.3
p.P1939A
c.5815C>G
1 paper
NM_030625.3
p.S1924F
c.5771C>T
1 paper
NM_030625.3
p.N1940D
c.5818A>G
1 paper
NM_030625.3
p.P1943fs
c.5827_5828fs
1 paper
NM_030625.3
p.F1945L
c.5833T>C
1 paper
NM_030625.3
p.F1945L
c.5835C>A
1 paper
NM_030625.3
p.F1945L
c.5835C>G
1 paper
NM_030625.3
p.T1947P
c.5839A>C
2 papers
NM_030625.3
p.P1916A
c.5746C>G
1 paper
NM_030625.3
p.S1948P
c.5842T>C
1 paper
NM_030625.3
p.D1951H
c.5851G>C
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