Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V636fs

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.V636fs
c.1906_1907fs
Surrounding Variants
1 paper
NM_001127208.3
p.V636I
c.1906G>A
3 papers
NM_001127208.3
p.V636fs
c.1906_1907fs
1 paper
NM_001127208.3
p.V636delFs
c.1907delT
4 papers
NM_001127208.3
p.V636A
c.1907T>C
2 papers
NM_001127208.3
p.V636G
c.1907T>G
2 papers
NM_001127208.3
p.M638_N639delFs
c.1912_1916del5
1 paper
NM_001127208.3
p.E637delFs
c.1909delG
1 paper
NM_001127208.3
p.Q635K
c.1903C>A
8 papers
NM_001127208.3
p.Q635*
c.1903C>T
3 papers
NM_001127208.3
p.E637K
c.1909G>A
1 paper
NM_001127208.3
p.E637fs
c.1909_1910fs
1 paper
NM_001127208.3
p.E637*
c.1909G>T
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."