Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1498H

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
2 papers
NM_001127208.3
p.R1498H
c.4493G>A
Surrounding Variants
1 paper
NM_001127208.3
p.R1498P
c.4493G>C
1 paper
NM_001127208.3
p.R1498S
c.4492C>A
2 papers
NM_001127208.3
p.R1498C
c.4492C>T
6 papers
NM_001127208.3
p.S1497*
c.4490C>A
5 papers
NM_001127208.3
p.S1497*
c.4490C>G
6 papers
NM_001127208.3
p.K1500delFs
c.4500delA
1 paper
NM_001127208.3
p.S1497_R1498delins
c.4490_4492delinsAAG
3 papers
NM_001127208.3
p.S1497P
c.4489T>C
4 papers
NM_001127208.3
p.K1500fs
c.4498_4499fs
2 papers
NM_001127208.3
p.K1500fs
c.4498_4499fs
1 paper
NM_001127208.3
p.K1500I
c.4499A>T
1 paper
NM_001127208.3
p.P1496L
c.4487C>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."