Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H650R

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.H650R
c.1949A>G
Surrounding Variants
1 paper
NM_001127208.3
p.H650delFs
c.1950delT
1 paper
NM_001127208.3
p.H650_L651delFs
c.1950_1951delTC
3 papers
NM_001127208.3
p.H650fs
c.1948_1949fs
1 paper
NM_001127208.3
p.H650Y
c.1948C>T
1 paper
NM_001127208.3
p.L651F
c.1951C>T
1 paper
NM_001127208.3
p.L651fs
c.1951_1952fs
1 paper
NM_001127208.3
p.Q652delFs
c.1954delC
2 papers
NM_001127208.3
p.Q649K
c.1945C>A
13 papers
NM_001127208.3
p.Q649*
c.1945C>T
1 paper
NM_001127208.3
p.Q649delFs
c.1947delA
1 paper
NM_001127208.3
p.Q649fs
c.1945_1946fs
2 papers
NM_001127208.3
p.Q652fs
c.1954_1955fs
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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."