Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1880fs

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.L1880fs
c.5638_5639fs
Surrounding Variants
1 paper
NM_001127208.3
p.E1879D
c.5637G>C
1 paper
NM_001127208.3
p.E1879D
c.5637G>T
2 papers
NM_001127208.3
p.L1880P
c.5639T>C
1 paper
NM_001127208.3
p.E1879insFs
c.5637dupG
6 papers
NM_001127208.3
p.E1879A
c.5636A>C
2 papers
NM_001127208.3
p.E1879G
c.5636A>G
1 paper
NM_001127208.3
p.H1881N
c.5641C>A
1 paper
NM_001127208.3
p.H1881D
c.5641C>G
5 papers
NM_001127208.3
p.H1881Y
c.5641C>T
3 papers
NM_001127208.3
p.E1879K
c.5635G>A
3 papers
NM_001127208.3
p.E1879Q
c.5635G>C
2 papers
NM_001127208.3
p.E1879*
c.5635G>T
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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."