Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1013fs

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
4 papers
NM_001127208.3
p.P1013fs
c.3037_3038fs
Surrounding Variants
2 papers
NM_001127208.3
p.P1013fs
c.3037_3038fs
2 papers
NM_001127208.3
p.P1013delFs
c.3038delC
1 paper
NM_001127208.3
p.P1013delFs
c.3039delT
6 papers
NM_001127208.3
p.P1012L
c.3035C>T
1 paper
NM_001127208.3
p.A1014_S1015del2
c.3040_3044del6
1 paper
NM_001127208.3
p.P1012fs
c.3034_3035fs
1 paper
NM_001127208.3
p.P1013_A1014del2
c.3037_3041del6
1 paper
NM_001127208.3
p.A1014P
c.3040G>C
1 paper
NM_001127208.3
p.A1014fs
c.3040_3041fs
1 paper
NM_001127208.3
p.A1014S
c.3040G>T
1 paper
NM_001127208.3
p.S1015fs
c.3043_3044fs
1 paper
NM_001127208.3
p.S1015G
c.3043A>G
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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."