Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.T1257M

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
3 papers
NM_001127208.3
p.T1257M
c.3770C>T
Surrounding Variants
1 paper
NM_001127208.3
p.L1258fs
c.3772_3773fs
1 paper
NM_001127208.3
p.L1258fs
c.3772_3773fs
4 papers
NM_001127208.3
p.G1256D
c.3767G>A
1 paper
NM_001127208.3
p.G1256A
c.3767G>C
1 paper
NM_001127208.3
p.G1256S
c.3766G>A
5 papers
NM_001127208.3
p.G1256R
c.3766G>C
1 paper
NM_001127208.3
p.G1256fs
c.3766_3767fs
1 paper
NM_001127208.3
p.T1259P
c.3775A>C
1 paper
NM_001127208.3
p.T1259A
c.3775A>G
30 papers
NM_001127208.3
p.Y1255*
c.3765C>A
30 papers
NM_001127208.3
p.Y1255*
c.3765C>G
1 paper
NM_001127208.3
p.Y1255Y
c.3765C>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."