Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C1263W

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.C1263W
c.3789T>G
Surrounding Variants
2 papers
NM_001127208.3
p.C1263*
c.3789T>A
10 papers
NM_001127208.3
p.C1263Y
c.3788G>A
2 papers
NM_001127208.3
p.C1263S
c.3788G>C
1 paper
NM_001127208.3
p.A1264delFs
c.3792delC
2 papers
NM_001127208.3
p.A1264V
c.3791C>T
2 papers
NM_001127208.3
p.C1263S
c.3787T>A
3 papers
NM_001127208.3
p.C1263R
c.3787T>C
1 paper
NM_001127208.3
p.C1263G
c.3787T>G
1 paper
NM_001127208.3
p.C1263fs
c.3787_3788fs
1 paper
NM_001127208.3
p.C1263delFs
c.3788delG
1 paper
NM_001127208.3
p.C1263fs
c.3787_3788fs
8 papers
NM_001127208.3
p.R1262Q
c.3785G>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."