Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1420fs

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.L1420fs
c.4258_4259fs
Surrounding Variants
2 papers
NM_001127208.3
p.L1420fs
c.4258_4259fs
2 papers
NM_001127208.3
p.L1420*
c.4259T>A
2 papers
NM_001127208.3
p.L1420*
c.4259T>G
1 paper
NM_001127208.3
p.L1420ins1
c.4259_4260insGTT
1 paper
NM_001127208.3
p.L1420del1
c.4258_4259delTTA
10 papers
NM_001127208.3
p.P1419R
c.4256C>G
1 paper
NM_001127208.3
p.P1419delFs
c.4257delT
1 paper
NM_001127208.3
p.P1419fs
c.4255_4256fs
1 paper
NM_001127208.3
p.P1419S
c.4255C>T
1 paper
NM_001127208.3
p.Y1421fs
c.4261_4262fs
1 paper
NM_001127208.3
p.L1418_P1419insFs
c.4254_4255insTT
6 papers
NM_001127208.3
p.Y1421*
c.4263C>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."