Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E100A

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.E100A
c.299A>C
Surrounding Variants
1 paper
NM_001127208.3
p.E100K
c.298G>A
1 paper
NM_001127208.3
p.E100*
c.298G>T
6 papers
NM_001127208.3
p.P101T
c.301C>A
1 paper
NM_001127208.3
p.P101fs
c.301_302fs
3 papers
NM_001127208.3
p.P101H
c.302C>A
1 paper
NM_001127208.3
p.S102delFs
c.304delT
1 paper
NM_001127208.3
p.S99fs
c.295_296fs
1 paper
NM_001127208.3
p.P101_S102ins2
c.303_304ins6
1 paper
NM_001127208.3
p.S104delFs
c.311_312delCT
1 paper
NM_001127208.3
p.S102fs
c.304_305fs
2 papers
NM_001127208.3
p.V98D
c.293T>A
2 papers
NM_001127208.3
p.V98A
c.293T>C
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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."