Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.T785A

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
3 papers
NM_030625.3
p.T785A
c.2353A>G
Surrounding Variants
1 paper
NM_030625.3
p.G783D
c.2348G>A
1 paper
NM_030625.3
p.G783S
c.2347G>A
1 paper
NM_030625.3
p.N778I
c.2333A>T
1 paper
NM_030625.3
p.N778fs
c.2332_2333fs
1 paper
NM_030625.3
p.K776fs
c.2326_2327fs
2 papers
NM_030625.3
p.K776delFs
c.2328delA
1 paper
NM_030625.3
p.A798_A803del6
c.2392_2408del18
1 paper
NM_030625.3
p.E769D
c.2307A>C
1 paper
NM_030625.3
p.E769D
c.2307A>T
1 paper
NM_030625.3
p.A803T
c.2407G>A
1 paper
NM_030625.3
p.M804V
c.2410A>G
1 paper
NM_030625.3
p.H762N
c.2284C>A
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