Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A241V

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
7 papers
NM_001127208.3
p.A241V
c.722C>T
Surrounding Variants
1 paper
NM_001127208.3
p.A241_V242ins4
c.721_725ins12
1 paper
NM_001127208.3
p.A241fs
c.721_722fs
1 paper
NM_001127208.3
p.V242L
c.724G>C
3 papers
NM_001127208.3
p.V242L
c.724G>T
1 paper
NM_001127208.3
p.A241insFs
c.721dupG
1 paper
NM_001127208.3
p.Q243del1
c.727_729delCAG
1 paper
NM_001127208.3
p.I240insFs
c.720dupT
1 paper
NM_001127208.3
p.I240fs
c.718_719fs
1 paper
NM_001127208.3
p.Q243_K244delFs
c.727_730del4
1 paper
NM_001127208.3
p.Q243fs
c.727_728fs
5 papers
NM_001127208.3
p.Q243*
c.727C>T
1 paper
NM_001127208.3
p.S239S
c.717C>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."