Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G1218fs

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.G1218fs
c.3652_3653fs
Surrounding Variants
1 paper
NM_001127208.3
p.A1217V
c.3650C>T
2 papers
NM_001127208.3
p.H1219N
c.3655C>A
3 papers
NM_001127208.3
p.H1219fs
c.3655_3656fs
5 papers
NM_001127208.3
p.H1219D
c.3655C>G
13 papers
NM_001127208.3
p.H1219Y
c.3655C>T
1 paper
NM_001127208.3
p.H1219fs
c.3655_3656fs
1 paper
NM_001127208.3
p.H1219_A1224delFs
c.3656_3672del17
1 paper
NM_001127208.3
p.A1217fs
c.3649_3650fs
2 papers
NM_001127208.3
p.H1219P
c.3656A>C
8 papers
NM_001127208.3
p.H1219R
c.3656A>G
3 papers
NM_001127208.3
p.H1219L
c.3656A>T
3 papers
NM_001127208.3
p.H1219Q
c.3657C>A
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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."