Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1571K

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.R1571K
c.4712G>A
Surrounding Variants
1 paper
NM_001127208.3
p.R1572_N1574delFs
c.4714_4721del8
1 paper
NM_001127208.3
p.R1571*
c.4711A>T
1 paper
NM_001127208.3
p.R1572fs
c.4714_4715fs
15 papers
NM_001127208.3
p.R1572W
c.4714C>T
11 papers
NM_001127208.3
p.R1572Q
c.4715G>A
1 paper
NM_001127208.3
p.M1570K
c.4709T>A
1 paper
NM_001127208.3
p.R1571_R1572del2
c.4711_4715del6
2 papers
NM_001127208.3
p.M1570fs
c.4708_4709fs
1 paper
NM_001127208.3
p.M1570insFs
c.4709_4710dupTG
1 paper
NM_001127208.3
p.M1570L
c.4708A>C
1 paper
NM_001127208.3
p.M1570V
c.4708A>G
1 paper
NM_001127208.3
p.M1570L
c.4708A>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."