Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1609M

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.L1609M
c.4825T>A
Surrounding Variants
1 paper
NM_001127208.3
p.L1609L
c.4825T>C
1 paper
NM_001127208.3
p.L1609fs
c.4825_4826fs
1 paper
NM_001127208.3
p.L1609fs
c.4825_4826fs
2 papers
NM_001127208.3
p.Y1608*
c.4824T>A
2 papers
NM_001127208.3
p.L1609*
c.4826T>A
2 papers
NM_001127208.3
p.Y1608*
c.4824T>G
1 paper
NM_001127208.3
p.L1609delFs
c.4826delT
1 paper
NM_001127208.3
p.L1609_N1610insFs
c.4827_4828insA
1 paper
NM_001127208.3
p.L1609F
c.4827G>T
2 papers
NM_001127208.3
p.N1610fs
c.4828_4829fs
1 paper
NM_001127208.3
p.Y1608fs
c.4822_4823fs
1 paper
NM_001127208.3
p.S1611delFs
c.4831delT
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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."