Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q461R

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.Q461R
c.1382A>G
Surrounding Variants
1 paper
NM_001127208.3
p.Q461_P465delFs
c.1383_1393del11
2 papers
NM_001127208.3
p.Q461fs
c.1381_1382fs
8 papers
NM_001127208.3
p.Q461*
c.1381C>T
1 paper
NM_001127208.3
p.Q461fs
c.1381_1382fs
1 paper
NM_001127208.3
p.Q461H
c.1383G>C
1 paper
NM_001127208.3
p.Q461H
c.1383G>T
1 paper
NM_001127208.3
p.S462R
c.1384A>C
1 paper
NM_001127208.3
p.S460S
c.1380C>T
1 paper
NM_001127208.3
p.Q461delFs
c.1381_1382delCA
12 papers
NM_001127208.3
p.S460F
c.1379C>T
1 paper
NM_001127208.3
p.S462N
c.1385G>A
1 paper
NM_001127208.3
p.S462insFs
c.1386dupT
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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."