Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1422fs

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.K1422fs
c.4264_4265fs
Surrounding Variants
1 paper
NM_001127208.3
p.K1422*
c.4264A>T
4 papers
NM_001127208.3
p.K1422fs
c.4264_4265fs
1 paper
NM_001127208.3
p.K1422_V1423delFs
c.4265_4268del4
6 papers
NM_001127208.3
p.Y1421*
c.4263C>A
6 papers
NM_001127208.3
p.Y1421*
c.4263C>G
1 paper
NM_001127208.3
p.K1422delFs
c.4266delA
1 paper
NM_001127208.3
p.K1422delFs
c.4265_4266delAA
2 papers
NM_001127208.3
p.V1423L
c.4267G>C
2 papers
NM_001127208.3
p.V1423fs
c.4267_4268fs
1 paper
NM_001127208.3
p.V1423delFs
c.4268_4269delTC
1 paper
NM_001127208.3
p.Y1421fs
c.4261_4262fs
2 papers
NM_001127208.3
p.L1420*
c.4259T>A
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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."