Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q674fs

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.Q674fs
c.2020_2021fs
Surrounding Variants
14 papers
NM_001127208.3
p.Q674*
c.2020C>T
1 paper
NM_001127208.3
p.Q674fs
c.2020_2021fs
1 paper
NM_001127208.3
p.Q674_L676delFs
c.2021_2028del8
1 paper
NM_001127208.3
p.S675_R680delFs
c.2023_2039del17
1 paper
NM_001127208.3
p.Q674_L676delFs
c.2022_2026del5
1 paper
NM_001127208.3
p.Q674_S675insFs
c.2022_2023insC
1 paper
NM_001127208.3
p.V673M
c.2017G>A
1 paper
NM_001127208.3
p.S675fs
c.2023_2024fs
7 papers
NM_001127208.3
p.S675*
c.2024C>A
7 papers
NM_001127208.3
p.S675*
c.2024C>G
1 paper
NM_001127208.3
p.H672P
c.2015A>C
2 papers
NM_001127208.3
p.H672fs
c.2014_2015fs
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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."