Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1001*

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
1 paper
NM_001127208.3
p.K1001*
c.3001A>T
Surrounding Variants
1 paper
NM_001127208.3
p.K1001fs
c.3001_3002fs
1 paper
NM_001127208.3
p.K1001Q
c.3001A>C
1 paper
NM_001127208.3
p.K1001insFs
c.3001dupA
1 paper
NM_001127208.3
p.T1002delFs
c.3004delA
1 paper
NM_001127208.3
p.T1002fs
c.3004_3005fs
2 papers
NM_001127208.3
p.N1000D
c.2998A>G
2 papers
NM_001127208.3
p.T1002fs
c.3004_3005fs
1 paper
NM_001127208.3
p.E999*
c.2995G>T
1 paper
NM_001127208.3
p.E999_A1014Fs
c.2995_3040delinsTCCFs
10 papers
NM_001127208.3
p.W1003*
c.3008G>A
10 papers
NM_001127208.3
p.W1003*
c.3009G>A
1 paper
NM_001127208.3
p.K1005insFs
c.3014_3015insA
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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."