Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1531L

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.L1531L
c.4591C>T
Surrounding Variants
1 paper
NM_001127208.3
p.L1531fs
c.4591_4592fs
1 paper
NM_001127208.3
p.Q1532fs
c.4594_4595fs
1 paper
NM_001127208.3
p.P1530_L1531insCAC
c.4588_4592ins9
1 paper
NM_001127208.3
p.P1530_L1531ins5
c.4588_4592ins15
11 papers
NM_001127208.3
p.Q1532*
c.4594C>T
1 paper
NM_001127208.3
p.P1530fs
c.4588_4589fs
1 paper
NM_001127208.3
p.Q1529P
c.4586A>C
3 papers
NM_001127208.3
p.K1533*
c.4597A>T
1 paper
NM_001127208.3
p.Q1529fs
c.4585_4586fs
9 papers
NM_001127208.3
p.Q1529*
c.4585C>T
3 papers
NM_001127208.3
p.Q1529fs
c.4585_4586fs
1 paper
NM_001127208.3
p.Q1529_K1533delFs
c.4587_4597del11
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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."