Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V430fs

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.V430fs
c.1288_1289fs
Surrounding Variants
1 paper
NM_001127208.3
p.V430I
c.1288G>A
3 papers
NM_001127208.3
p.V430fs
c.1288_1289fs
2 papers
NM_001127208.3
p.L431delFs
c.1292delT
1 paper
NM_001127208.3
p.V430delFs
c.1288delG
1 paper
NM_001127208.3
p.V430A
c.1289T>C
1 paper
NM_001127208.3
p.G429_V430insFs
c.1287_1288ins4
1 paper
NM_001127208.3
p.L431_E432del2
c.1291_1295del6
18 papers
NM_001127208.3
p.G429R
c.1285G>A
17 papers
NM_001127208.3
p.G429R
c.1285G>C
1 paper
NM_001127208.3
p.G429*
c.1285G>T
1 paper
NM_001127208.3
p.G429delFs
c.1286_1287delGA
3 papers
NM_001127208.3
p.G429fs
c.1285_1286fs
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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."