Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A304delFs

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.A304delFs
c.912delC
Surrounding Variants
1 paper
NM_001127208.3
p.A304V
c.911C>T
1 paper
NM_001127208.3
p.A304del1
c.910_911delGCC
1 paper
NM_001127208.3
p.A304_S305ins1
c.912_913insTTG
1 paper
NM_001127208.3
p.N303fs
c.907_908fs
1 paper
NM_001127208.3
p.N303_A304ins6
c.907_911ins18
1 paper
NM_001127208.3
p.N303_L307delFs
c.908_921del14
1 paper
NM_001127208.3
p.S305Fs
c.915delinsTAFs
1 paper
NM_001127208.3
p.K306fs
c.916_917fs
1 paper
NM_001127208.3
p.K306fs
c.916_917fs
2 papers
NM_001127208.3
p.D302H
c.904G>C
1 paper
NM_001127208.3
p.D302insFs
c.905dupA
1 paper
NM_001127208.3
p.D302fs
c.904_905fs
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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."