Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1467fs

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
3 papers
NM_001127208.3
p.R1467fs
c.4399_4400fs
Surrounding Variants
1 paper
NM_001127208.3
p.R1467delFs
c.4400delG
2 papers
NM_001127208.3
p.R1467fs
c.4399_4400fs
1 paper
NM_001127208.3
p.R1467K
c.4400G>A
1 paper
NM_001127208.3
p.Q1466_R1467delFs
c.4398_4401del4
1 paper
NM_001127208.3
p.K1468_L1469insFs
c.4402_4405dup4
1 paper
NM_001127208.3
p.K1468fs
c.4402_4403fs
5 papers
NM_001127208.3
p.K1468*
c.4402A>T
1 paper
NM_001127208.3
p.L1469_E1470del2
c.4405_4409del6
1 paper
NM_001127208.3
p.Q1466fs
c.4396_4397fs
5 papers
NM_001127208.3
p.Q1466*
c.4396C>T
3 papers
NM_001127208.3
p.R1467delFs
c.4399delA
1 paper
NM_001127208.3
p.K1468R
c.4403A>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."