Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D1640G

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.D1640G
c.4919A>G
Surrounding Variants
1 paper
NM_001127208.3
p.D1640fs
c.4918_4919fs
2 papers
NM_001127208.3
p.N1641I
c.4922A>T
1 paper
NM_001127208.3
p.V1639M
c.4915G>A
1 paper
NM_001127208.3
p.V1639fs
c.4915_4916fs
3 papers
NM_001127208.3
p.C1642fs
c.4924_4925fs
1 paper
NM_001127208.3
p.C1642delFs
c.4925delG
3 papers
NM_001127208.3
p.C1642fs
c.4924_4925fs
2 papers
NM_001127208.3
p.S1638*
c.4913C>A
2 papers
NM_001127208.3
p.S1638*
c.4913C>G
1 paper
NM_001127208.3
p.C1642*
c.4926C>A
1 paper
NM_001127208.3
p.C1642W
c.4926C>G
1 paper
NM_001127208.3
p.S1638fs
c.4912_4913fs
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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."