Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G1697R

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
4 papers
NM_001127208.3
p.G1697R
c.5089G>A
Surrounding Variants
4 papers
NM_001127208.3
p.G1697R
c.5089G>C
1 paper
NM_001127208.3
p.G1697*
c.5089G>T
1 paper
NM_001127208.3
p.G1697V
c.5090G>T
1 paper
NM_001127208.3
p.Y1696*
c.5088T>A
1 paper
NM_001127208.3
p.Y1696*
c.5088T>G
1 paper
NM_001127208.3
p.Y1696C
c.5087A>G
1 paper
NM_001127208.3
p.Y1696F
c.5087A>T
2 papers
NM_001127208.3
p.Y1696fs
c.5086_5087fs
1 paper
NM_001127208.3
p.Q1699_G1703del5
c.5095_5108del15
1 paper
NM_001127208.3
p.G1695D
c.5084G>A
6 papers
NM_001127208.3
p.Q1699*
c.5095C>T
2 papers
NM_001127208.3
p.N1700delFs
c.5099delA
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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."