Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L431_E432del2

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.L431_E432del2
c.1291_1295del6
Surrounding Variants
1 paper
NM_001127208.3
p.V430A
c.1289T>C
1 paper
NM_001127208.3
p.L431fs
c.1291_1292fs
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
3 papers
NM_001127208.3
p.V430fs
c.1288_1289fs
3 papers
NM_001127208.3
p.L431*
c.1292T>A
3 papers
NM_001127208.3
p.L431*
c.1292T>G
3 papers
NM_001127208.3
p.E433del1
c.1297_1298delGAA
1 paper
NM_001127208.3
p.E432_E433delFs
c.1294_1298del5
1 paper
NM_001127208.3
p.L431F
c.1293A>T
1 paper
NM_001127208.3
p.V430delFs
c.1288delG
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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."