Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H661_H667del7

TET2

2,192 papers

RefSeq Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defect...

Pfam Domains

Tet_JBPaa 1290–1905UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 2

HGNC Previous Symbol

KIAA1546

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127208.3
p.H661_H667del7
c.1981_2000del21
Surrounding Variants
2 papers
NM_001127208.3
p.V660L
c.1978G>C
1 paper
NM_001127208.3
p.V660L
c.1978G>T
2 papers
NM_001127208.3
p.V660delFs
c.1979delT
1 paper
NM_001127208.3
p.V660fs
c.1978_1979fs
1 paper
NM_001127208.3
p.Q659R
c.1976A>G
1 paper
NM_001127208.3
p.F662L
c.1984T>C
1 paper
NM_001127208.3
p.F662fs
c.1984_1985fs
1 paper
NM_001127208.3
p.F662_S663insG
c.1984_1988ins3
1 paper
NM_001127208.3
p.F662_S663insTC
c.1984_1988ins6
1 paper
NM_001127208.3
p.Q659fs
c.1975_1976fs
1 paper
NM_001127208.3
p.Q659E
c.1975C>G
11 papers
NM_001127208.3
p.Q659*
c.1975C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."