Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1721W

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
62 papers
NM_001127208.3
p.L1721W
c.5162T>G
Surrounding Variants
1 paper
NM_001127208.3
p.L1721*
c.5162T>A
1 paper
NM_001127208.3
p.L1721delins
c.5162_5163delinsGA
2 papers
NM_001127208.3
p.L1721delFs
c.5163delG
1 paper
NM_001127208.3
p.L1721_P1722Fs
c.5162_5166delinsGGCCFs
1 paper
NM_001127208.3
p.P1722delFs
c.5165delC
2 papers
NM_001127208.3
p.L1721fs
c.5161_5162fs
3 papers
NM_001127208.3
p.L1721fs
c.5161_5162fs
1 paper
NM_001127208.3
p.L1721insFs
c.5162dupT
1 paper
NM_001127208.3
p.P1722_P1723insC
c.5164_5168ins3
1 paper
NM_001127208.3
p.P1722fs
c.5164_5165fs
5 papers
NM_001127208.3
p.K1720*
c.5158A>T
37 papers
NM_001127208.3
p.P1723S
c.5167C>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."