Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1832fs

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
3 papers
NM_001127208.3
p.L1832fs
c.5494_5495fs
Surrounding Variants
1 paper
NM_001127208.3
p.L1832fs
c.5494_5495fs
1 paper
NM_001127208.3
p.L1832_V1833delFs
c.5496_5499del4
1 paper
NM_001127208.3
p.A1831T
c.5491G>A
1 paper
NM_001127208.3
p.V1833I
c.5497G>A
2 papers
NM_001127208.3
p.A1831S
c.5491G>T
2 papers
NM_001127208.3
p.V1833fs
c.5497_5498fs
1 paper
NM_001127208.3
p.V1833A
c.5498T>C
1 paper
NM_001127208.3
p.Q1834delFs
c.5500_5501delCA
1 paper
NM_001127208.3
p.L1830*
c.5489T>A
3 papers
NM_001127208.3
p.Q1834fs
c.5500_5501fs
9 papers
NM_001127208.3
p.Q1834*
c.5500C>T
2 papers
NM_001127208.3
p.Q1834fs
c.5500_5501fs
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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."