Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1052E

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.K1052E
c.3154A>G
Surrounding Variants
1 paper
NM_001127208.3
p.Q1051H
c.3153G>C
1 paper
NM_001127208.3
p.Q1051_K1052insFs
c.3153_3154ins4
1 paper
NM_001127208.3
p.Q1051H
c.3153G>T
6 papers
NM_001127208.3
p.Q1053*
c.3157C>T
4 papers
NM_001127208.3
p.Q1051*
c.3151C>T
1 paper
NM_001127208.3
p.Q1051_V1054delFs
c.3151_3160del10
2 papers
NM_001127208.3
p.S1050*
c.3149C>A
2 papers
NM_001127208.3
p.S1050*
c.3149C>G
1 paper
NM_001127208.3
p.S1050_K1055delFs
c.3150_3163del14
2 papers
NM_001127208.3
p.V1054fs
c.3160_3161fs
1 paper
NM_001127208.3
p.V1054insFs
c.3161dupT
2 papers
NM_001127208.3
p.S1050fs
c.3148_3149fs
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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."