Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C1875R

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.C1875R
c.5623T>C
Surrounding Variants
2 papers
NM_001127208.3
p.C1875G
c.5623T>G
1 paper
NM_001127208.3
p.C1875fs
c.5623_5624fs
2 papers
NM_001127208.3
p.C1875Y
c.5624G>A
2 papers
NM_001127208.3
p.E1874A
c.5621A>C
2 papers
NM_001127208.3
p.E1874V
c.5621A>T
1 paper
NM_001127208.3
p.C1875*
c.5625T>A
1 paper
NM_001127208.3
p.C1875W
c.5625T>G
4 papers
NM_001127208.3
p.E1874K
c.5620G>A
4 papers
NM_001127208.3
p.A1876T
c.5626G>A
3 papers
NM_001127208.3
p.E1874Q
c.5620G>C
1 paper
NM_001127208.3
p.E1874fs
c.5620_5621fs
1 paper
NM_001127208.3
p.A1876fs
c.5626_5627fs
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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."