Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L748delFs

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
2 papers
NM_001127208.3
p.L748delFs
c.2243delT
Surrounding Variants
1 paper
NM_001127208.3
p.K747R
c.2240A>G
2 papers
NM_001127208.3
p.L748fs
c.2242_2243fs
1 paper
NM_001127208.3
p.L748_Q749del1
c.2243_2245delTAC
2 papers
NM_001127208.3
p.Q749_I750del2
c.2245_2249del6
1 paper
NM_001127208.3
p.K747fs
c.2239_2240fs
1 paper
NM_001127208.3
p.K747*
c.2239A>T
2 papers
NM_001127208.3
p.L748*
c.2243T>A
2 papers
NM_001127208.3
p.L748*
c.2243T>G
1 paper
NM_001127208.3
p.L748insFs
c.2244dupA
1 paper
NM_001127208.3
p.Q749delFs
c.2245delC
1 paper
NM_001127208.3
p.Q749K
c.2245C>A
9 papers
NM_001127208.3
p.Q749fs
c.2245_2246fs
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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."