Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.L2002fs

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.L2002fs
c.6004_6005fs
Surrounding Variants
1 paper
NM_030625.3
p.L2002delFs
c.6005delT
1 paper
NM_030625.3
p.H1999P
c.5996A>C
1 paper
NM_030625.3
p.S1997C
c.5989A>T
1 paper
NM_030625.3
p.D1996ins2
c.5987_5988ins6
1 paper
NM_030625.3
p.D1991E
c.5973T>A
1 paper
NM_030625.3
p.D1991E
c.5973T>G
1 paper
NM_030625.3
p.H1989H
c.5967C>T
1 paper
NM_030625.3
p.P1988S
c.5962C>T
1 paper
NM_030625.3
p.I2020F
c.6058A>T
1 paper
NM_030625.3
p.E1984Q
c.5950G>C
1 paper
NM_030625.3
p.L1980fs
c.5938_5939fs
1 paper
NM_030625.3
p.R2024Q
c.6071G>A
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