Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1244R

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.L1244R
c.3731T>G
Surrounding Variants
5 papers
NM_001127208.3
p.L1244P
c.3731T>C
4 papers
NM_001127208.3
p.L1244fs
c.3730_3731fs
1 paper
NM_001127208.3
p.L1244F
c.3730C>T
1 paper
NM_001127208.3
p.L1244L
c.3732C>T
13 papers
NM_001127208.3
p.L1244_Y1245delFs
c.3732_3733delCT
1 paper
NM_001127208.3
p.L1244del1
c.3730_3731delCTC
2 papers
NM_001127208.3
p.Y1245N
c.3733T>A
1 paper
NM_001127208.3
p.Y1245D
c.3733T>G
4 papers
NM_001127208.3
p.Y1245fs
c.3733_3734fs
13 papers
NM_001127208.3
p.Y1245fs
c.3733_3734fs
4 papers
NM_001127208.3
p.Y1245S
c.3734A>C
12 papers
NM_001127208.3
p.Y1245C
c.3734A>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."