Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V1864E

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
3 papers
NM_001127208.3
p.V1864E
c.5591T>A
Surrounding Variants
1 paper
NM_001127208.3
p.V1864G
c.5591T>G
4 papers
NM_001127208.3
p.V1864M
c.5590G>A
2 papers
NM_001127208.3
p.V1864fs
c.5590_5591fs
2 papers
NM_001127208.3
p.A1865T
c.5593G>A
1 paper
NM_001127208.3
p.A1865S
c.5593G>T
4 papers
NM_001127208.3
p.A1863D
c.5588C>A
1 paper
NM_001127208.3
p.A1865D
c.5594C>A
7 papers
NM_001127208.3
p.A1865G
c.5594C>G
7 papers
NM_001127208.3
p.A1863V
c.5588C>T
2 papers
NM_001127208.3
p.A1863T
c.5587G>A
1 paper
NM_001127208.3
p.A1863S
c.5587G>T
1 paper
NM_001127208.3
p.P1866fs
c.5596_5597fs
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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."