Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.T1980A

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.T1980A
c.5938A>G
Surrounding Variants
10 papers
NM_001127208.3
p.T1980I
c.5939C>T
1 paper
NM_001127208.3
p.T1979P
c.5935A>C
1 paper
NM_001127208.3
p.T1979fs
c.5935_5936fs
1 paper
NM_001127208.3
p.D1981N
c.5941G>A
2 papers
NM_001127208.3
p.D1981G
c.5942A>G
1 paper
NM_001127208.3
p.V1978A
c.5933T>C
2 papers
NM_001127208.3
p.V1978M
c.5932G>A
1 paper
NM_001127208.3
p.V1978L
c.5932G>C
1 paper
NM_001127208.3
p.V1978fs
c.5932_5933fs
1 paper
NM_001127208.3
p.V1978insFs
c.5933dupT
1 paper
NM_001127208.3
p.V1978L
c.5932G>T
1 paper
NM_001127208.3
p.V1984insFs
c.5951dupT
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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."