Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A308T

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.A308T
c.922G>A
Surrounding Variants
2 papers
NM_001127208.3
p.A308delins
c.922_923delinsCC
1 paper
NM_001127208.3
p.A308fs
c.922_923fs
1 paper
NM_001127208.3
p.A308V
c.923C>T
3 papers
NM_001127208.3
p.L307R
c.920T>G
1 paper
NM_001127208.3
p.L307ins2
c.920_921ins6
1 paper
NM_001127208.3
p.A309ins1
c.925_926insTGG
1 paper
NM_001127208.3
p.L307_S315del0
c.921_944del24
1 paper
NM_001127208.3
p.L307ins2
c.919_920ins6
1 paper
NM_001127208.3
p.L307L
c.919C>T
1 paper
NM_001127208.3
p.L307fs
c.919_920fs
1 paper
NM_001127208.3
p.A309_M310ins1
c.927_928insGAG
1 paper
NM_001127208.3
p.K306fs
c.916_917fs
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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."