Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1205R

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.S1205R
c.3615T>A
Surrounding Variants
1 paper
NM_001127208.3
p.S1205R
c.3615T>G
1 paper
NM_001127208.3
p.E1206K
c.3616G>A
1 paper
NM_001127208.3
p.S1205T
c.3614G>C
1 paper
NM_001127208.3
p.S1205delFs
c.3615delT
1 paper
NM_001127208.3
p.S1205fs
c.3613_3614fs
1 paper
NM_001127208.3
p.S1205R
c.3613A>C
3 papers
NM_001127208.3
p.E1207K
c.3619G>A
1 paper
NM_001127208.3
p.E1207Q
c.3619G>C
2 papers
NM_001127208.3
p.E1207fs
c.3619_3620fs
1 paper
NM_001127208.3
p.S1204I
c.3611G>T
1 paper
NM_001127208.3
p.E1207*
c.3619G>T
1 paper
NM_001127208.3
p.E1207_L1209insFs
c.3621_3625dup5
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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."