Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A1605V

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.A1605V
c.4814C>T
Surrounding Variants
1 paper
NM_001127208.3
p.G1606R
c.4816G>C
1 paper
NM_001127208.3
p.G1606fs
c.4816_4817fs
1 paper
NM_001127208.3
p.G1606fs
c.4816_4817fs
1 paper
NM_001127208.3
p.G1606_S1607delFs
c.4817_4821del5
2 papers
NM_001127208.3
p.A1605_Y1608del4
c.4813_4823del12
5 papers
NM_001127208.3
p.G1606A
c.4817G>C
6 papers
NM_001127208.3
p.S1607*
c.4820C>A
6 papers
NM_001127208.3
p.S1607*
c.4820C>G
1 paper
NM_001127208.3
p.S1607L
c.4820C>T
5 papers
NM_001127208.3
p.Q1603*
c.4807C>T
1 paper
NM_001127208.3
p.Y1608fs
c.4822_4823fs
1 paper
NM_001127208.3
p.L1609delFs
c.4826delT
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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."