Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1893fs

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.H1893fs
c.5677_5678fs
Surrounding Variants
2 papers
NM_001127208.3
p.H1893Y
c.5677C>T
1 paper
NM_001127208.3
p.H1893P
c.5678A>C
2 papers
NM_001127208.3
p.P1894delFs
c.5682delC
1 paper
NM_001127208.3
p.N1892delFs
c.5676delT
1 paper
NM_001127208.3
p.H1893Q
c.5679C>A
1 paper
NM_001127208.3
p.H1893Q
c.5679C>G
1 paper
NM_001127208.3
p.P1894_T1895delFs
c.5682_5685del4
1 paper
NM_001127208.3
p.N1892fs
c.5674_5675fs
2 papers
NM_001127208.3
p.P1894T
c.5680C>A
5 papers
NM_001127208.3
p.P1894H
c.5681C>A
2 papers
NM_001127208.3
p.P1894R
c.5681C>G
9 papers
NM_001127208.3
p.P1894L
c.5681C>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."