Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A1810fs

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
4 papers
NM_001127208.3
p.A1810fs
c.5428_5429fs
Surrounding Variants
1 paper
NM_001127208.3
p.A1810insFs
c.5430dupT
2 papers
NM_001127208.3
p.A1810delFs
c.5430delT
1 paper
NM_001127208.3
p.T1809I
c.5426C>T
1 paper
NM_001127208.3
p.T1809A
c.5425A>G
2 papers
NM_001127208.3
p.C1811R
c.5431T>C
2 papers
NM_001127208.3
p.C1811fs
c.5431_5432fs
1 paper
NM_001127208.3
p.C1811*
c.5433T>A
1 paper
NM_001127208.3
p.R1808fs
c.5422_5423fs
1 paper
NM_001127208.3
p.R1808*
c.5422A>T
1 paper
NM_001127208.3
p.R1808fs
c.5422_5423fs
1 paper
NM_001127208.3
p.R1808_C1811delFs
c.5423_5433del11
1 paper
NM_001127208.3
p.V1812fs
c.5434_5435fs
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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."