Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1594fs

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.P1594fs
c.4780_4781fs
Surrounding Variants
2 papers
NM_001127208.3
p.P1594fs
c.4780_4781fs
1 paper
NM_001127208.3
p.M1595_Y1598delFs
c.4785_4794del10
1 paper
NM_001127208.3
p.S1593R
c.4779C>A
1 paper
NM_001127208.3
p.P1594insFs
c.4782dupT
1 paper
NM_001127208.3
p.S1593R
c.4779C>G
1 paper
NM_001127208.3
p.P1594delFs
c.4781delC
1 paper
NM_001127208.3
p.P1594delFs
c.4780_4781delCC
1 paper
NM_001127208.3
p.M1595_F1597del3
c.4783_4790del9
1 paper
NM_001127208.3
p.S1593R
c.4777A>C
2 papers
NM_001127208.3
p.M1595V
c.4783A>G
1 paper
NM_001127208.3
p.S1593fs
c.4777_4778fs
1 paper
NM_001127208.3
p.M1595fs
c.4783_4784fs
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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."