Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N202fs

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.N202fs
c.604_605fs
Surrounding Variants
2 papers
NM_001127208.3
p.N202fs
c.604_605fs
1 paper
NM_001127208.3
p.N202S
c.605A>G
1 paper
NM_001127208.3
p.N202K
c.606C>A
1 paper
NM_001127208.3
p.N202K
c.606C>G
2 papers
NM_001127208.3
p.N202N
c.606C>T
2 papers
NM_001127208.3
p.K201*
c.601A>T
1 paper
NM_001127208.3
p.K203*
c.607A>T
1 paper
NM_001127208.3
p.N202delFs
c.605delA
1 paper
NM_001127208.3
p.N202delFs
c.604_605delAA
1 paper
NM_001127208.3
p.K203K
c.609G>A
1 paper
NM_001127208.3
p.L200_K201insTA
c.598_602ins6
1 paper
NM_001127208.3
p.A204V
c.611C>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."