Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1081*

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.L1081*
c.3242T>A
Surrounding Variants
1 paper
NM_001127208.3
p.L1081S
c.3242T>C
2 papers
NM_001127208.3
p.L1081*
c.3242T>G
2 papers
NM_001127208.3
p.E1082*
c.3244G>T
1 paper
NM_001127208.3
p.A1080G
c.3239C>G
1 paper
NM_001127208.3
p.A1080V
c.3239C>T
1 paper
NM_001127208.3
p.A1080fs
c.3238_3239fs
11 papers
NM_001127208.3
p.Q1083*
c.3247C>T
2 papers
NM_001127208.3
p.Q1083fs
c.3247_3248fs
1 paper
NM_001127208.3
p.P1079L
c.3236C>T
1 paper
NM_001127208.3
p.P1079T
c.3235C>A
1 paper
NM_001127208.3
p.Q1083H
c.3249G>C
1 paper
NM_001127208.3
p.Q1084insFs
c.3250_3251insC
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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."