Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1903K

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.Q1903K
c.5707C>A
Surrounding Variants
5 papers
NM_001127208.3
p.Q1903*
c.5707C>T
7 papers
NM_001127208.3
p.Y1902*
c.5706C>A
7 papers
NM_001127208.3
p.Y1902*
c.5706C>G
1 paper
NM_001127208.3
p.Y1902Y
c.5706C>T
1 paper
NM_001127208.3
p.Q1903_H1904del1
c.5709_5711delGCA
2 papers
NM_001127208.3
p.Y1902S
c.5705A>C
2 papers
NM_001127208.3
p.Y1902C
c.5705A>G
2 papers
NM_001127208.3
p.Y1902F
c.5705A>T
2 papers
NM_001127208.3
p.H1904D
c.5710C>G
3 papers
NM_001127208.3
p.H1904Y
c.5710C>T
2 papers
NM_001127208.3
p.Y1902N
c.5704T>A
7 papers
NM_001127208.3
p.Y1902H
c.5704T>C
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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."