Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1899delFs

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.L1899delFs
c.5695delC
Surrounding Variants
1 paper
NM_001127208.3
p.S1898T
c.5692T>A
1 paper
NM_001127208.3
p.S1898P
c.5692T>C
4 papers
NM_001127208.3
p.S1898Y
c.5693C>A
3 papers
NM_001127208.3
p.S1898C
c.5693C>G
19 papers
NM_001127208.3
p.S1898F
c.5693C>T
1 paper
NM_001127208.3
p.S1898delFs
c.5692delT
1 paper
NM_001127208.3
p.I1897N
c.5690T>A
2 papers
NM_001127208.3
p.I1897T
c.5690T>C
2 papers
NM_001127208.3
p.I1897S
c.5690T>G
1 paper
NM_001127208.3
p.I1897fs
c.5689_5690fs
1 paper
NM_001127208.3
p.I1897insFs
c.5689_5690insTC
1 paper
NM_001127208.3
p.I1897L
c.5689A>C
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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."