Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1912Q

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.H1912Q
c.5736T>G
Surrounding Variants
2 papers
NM_001127208.3
p.H1912Q
c.5736T>A
1 paper
NM_001127208.3
p.G1913insFs
c.5738dupG
1 paper
NM_001127208.3
p.G1913delFs
c.5738delG
1 paper
NM_001127208.3
p.H1912P
c.5735A>C
8 papers
NM_001127208.3
p.H1912R
c.5735A>G
1 paper
NM_001127208.3
p.H1912fs
c.5734_5735fs
7 papers
NM_001127208.3
p.H1912Y
c.5734C>T
12 papers
NM_001127208.3
p.G1913D
c.5738G>A
2 papers
NM_001127208.3
p.G1913V
c.5738G>T
1 paper
NM_001127208.3
p.H1912_L1916del5
c.5734_5747del15
1 paper
NM_001127208.3
p.K1911R
c.5732A>G
1 paper
NM_001127208.3
p.L1914ins2
c.5740_5741ins6
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."