Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1380Q

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.H1380Q
c.4140T>A
Surrounding Variants
4 papers
NM_001127208.3
p.H1380H
c.4140T>C
3 papers
NM_001127208.3
p.H1380Q
c.4140T>G
7 papers
NM_001127208.3
p.H1380P
c.4139A>C
8 papers
NM_001127208.3
p.H1380R
c.4139A>G
7 papers
NM_001127208.3
p.H1380L
c.4139A>T
1 paper
NM_001127208.3
p.A1381T
c.4141G>A
1 paper
NM_001127208.3
p.A1381fs
c.4141_4142fs
1 paper
NM_001127208.3
p.H1382delFs
c.4144delC
3 papers
NM_001127208.3
p.H1380N
c.4138C>A
8 papers
NM_001127208.3
p.H1380D
c.4138C>G
53 papers
NM_001127208.3
p.H1380Y
c.4138C>T
1 paper
NM_001127208.3
p.A1379D
c.4136C>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."