Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1357Q

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
2 papers
NM_001127208.3
p.E1357Q
c.4069G>C
Surrounding Variants
1 paper
NM_001127208.3
p.E1357fs
c.4069_4070fs
4 papers
NM_001127208.3
p.E1357*
c.4069G>T
1 paper
NM_001127208.3
p.C1358delFs
c.4072_4073delTG
1 paper
NM_001127208.3
p.C1358_G1365del8
c.4072_4094del24
2 papers
NM_001127208.3
p.C1358S
c.4072T>A
5 papers
NM_001127208.3
p.C1358R
c.4072T>C
4 papers
NM_001127208.3
p.C1358G
c.4072T>G
1 paper
NM_001127208.3
p.C1358fs
c.4072_4073fs
7 papers
NM_001127208.3
p.C1358Y
c.4073G>A
2 papers
NM_001127208.3
p.C1358S
c.4073G>C
1 paper
NM_001127208.3
p.A1355E
c.4064C>A
6 papers
NM_001127208.3
p.A1355V
c.4064C>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."