Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1680*

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
16 papers
NM_001127208.3
p.Q1680*
c.5038C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q1680fs
c.5038_5039fs
1 paper
NM_001127208.3
p.Q1680_R1682delFs
c.5039_5046del8
1 paper
NM_001127208.3
p.Q1680P
c.5039A>C
2 papers
NM_001127208.3
p.Q1680R
c.5039A>G
1 paper
NM_001127208.3
p.Y1679*
c.5037C>A
1 paper
NM_001127208.3
p.Y1679*
c.5037C>G
1 paper
NM_001127208.3
p.P1681fs
c.5041_5042fs
3 papers
NM_001127208.3
p.Y1679fs
c.5035_5036fs
2 papers
NM_001127208.3
p.L1678insFs
c.5032_5033insT
1 paper
NM_001127208.3
p.L1678_Y1679delFs
c.5034_5035delTT
1 paper
NM_001127208.3
p.L1678del1
c.5032_5033delCTT
2 papers
NM_001127208.3
p.T1677fs
c.5029_5030fs
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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."