Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1243fs

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.K1243fs
c.3727_3728fs
Surrounding Variants
2 papers
NM_001127208.3
p.K1243fs
c.3727_3728fs
7 papers
NM_001127208.3
p.K1243R
c.3728A>G
4 papers
NM_001127208.3
p.Y1245_S1246delFs
c.3733_3737del5
1 paper
NM_001127208.3
p.K1243_Y1245delFs
c.3729_3735del7
1 paper
NM_001127208.3
p.K1243delFs
c.3728_3729delAA
1 paper
NM_001127208.3
p.D1242G
c.3725A>G
8 papers
NM_001127208.3
p.D1242V
c.3725A>T
13 papers
NM_001127208.3
p.L1244_Y1245delFs
c.3732_3733delCT
1 paper
NM_001127208.3
p.L1244del1
c.3730_3731delCTC
4 papers
NM_001127208.3
p.L1244fs
c.3730_3731fs
1 paper
NM_001127208.3
p.L1244F
c.3730C>T
1 paper
NM_001127208.3
p.D1242Y
c.3724G>T
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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."