Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1841fs

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.E1841fs
c.5521_5522fs
Surrounding Variants
2 papers
NM_001127208.3
p.E1841*
c.5521G>T
1 paper
NM_001127208.3
p.A1840V
c.5519C>T
1 paper
NM_001127208.3
p.A1840T
c.5518G>A
1 paper
NM_001127208.3
p.D1842_N1843insA
c.5524_5528ins3
1 paper
NM_001127208.3
p.A1840S
c.5518G>T
1 paper
NM_001127208.3
p.N1843del1
c.5527_5529delAAC
2 papers
NM_001127208.3
p.D1842G
c.5525A>G
1 paper
NM_001127208.3
p.N1843Y
c.5527A>T
1 paper
NM_001127208.3
p.G1839fs
c.5515_5516fs
2 papers
NM_001127208.3
p.N1843S
c.5528A>G
2 papers
NM_001127208.3
p.N1843K
c.5529C>A
2 papers
NM_001127208.3
p.N1843K
c.5529C>G
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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."