Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1359L

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.R1359L
c.4076G>T
Surrounding Variants
25 papers
NM_001127208.3
p.R1359H
c.4076G>A
6 papers
NM_001127208.3
p.R1359P
c.4076G>C
15 papers
NM_001127208.3
p.R1359S
c.4075C>A
3 papers
NM_001127208.3
p.R1359G
c.4075C>G
51 papers
NM_001127208.3
p.R1359C
c.4075C>T
1 paper
NM_001127208.3
p.R1359fs
c.4075_4076fs
1 paper
NM_001127208.3
p.L1360M
c.4078C>A
1 paper
NM_001127208.3
p.L1360fs
c.4078_4079fs
1 paper
NM_001127208.3
p.C1358_R1359delins
c.4074_4076delinsGCA
7 papers
NM_001127208.3
p.C1358Y
c.4073G>A
2 papers
NM_001127208.3
p.C1358S
c.4073G>C
8 papers
NM_001127208.3
p.L1360Q
c.4079T>A
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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."