Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1401*

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.E1401*
c.4201G>T
Surrounding Variants
1 paper
NM_001127208.3
p.E1401fs
c.4201_4202fs
1 paper
NM_001127208.3
p.E1401delFs
c.4201delG
1 paper
NM_001127208.3
p.E1401_D1402insFs
c.4203_4204ins7
1 paper
NM_001127208.3
p.R1400*
c.4198A>T
1 paper
NM_001127208.3
p.T1399delFs
c.4197delT
1 paper
NM_001127208.3
p.T1399fs
c.4195_4196fs
2 papers
NM_001127208.3
p.T1399P
c.4195A>C
2 papers
NM_001127208.3
p.N1403S
c.4208A>G
1 paper
NM_001127208.3
p.L1398H
c.4193T>A
1 paper
NM_001127208.3
p.L1398P
c.4193T>C
5 papers
NM_001127208.3
p.L1398R
c.4193T>G
2 papers
NM_001127208.3
p.L1398fs
c.4192_4193fs
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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."