Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1866R

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.P1866R
c.5597C>G
Surrounding Variants
1 paper
NM_001127208.3
p.P1866fs
c.5596_5597fs
1 paper
NM_001127208.3
p.P1866_T1867delFs
c.5597_5601del5
1 paper
NM_001127208.3
p.A1865D
c.5594C>A
7 papers
NM_001127208.3
p.A1865G
c.5594C>G
1 paper
NM_001127208.3
p.T1867I
c.5600C>T
2 papers
NM_001127208.3
p.A1865T
c.5593G>A
1 paper
NM_001127208.3
p.A1865S
c.5593G>T
1 paper
NM_001127208.3
p.H1868_G1869delFs
c.5602_5605del4
2 papers
NM_001127208.3
p.H1868fs
c.5602_5603fs
5 papers
NM_001127208.3
p.H1868D
c.5602C>G
10 papers
NM_001127208.3
p.H1868Y
c.5602C>T
1 paper
NM_001127208.3
p.H1868delFs
c.5603delA
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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."