Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R815K

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.R815K
c.2444G>A
Surrounding Variants
1 paper
NM_001127208.3
p.N816delFs
c.2447delA
8 papers
NM_001127208.3
p.R814H
c.2441G>A
1 paper
NM_001127208.3
p.R814L
c.2441G>T
1 paper
NM_001127208.3
p.R814delFs
c.2442delT
1 paper
NM_001127208.3
p.R814fs
c.2440_2441fs
35 papers
NM_001127208.3
p.R814C
c.2440C>T
1 paper
NM_001127208.3
p.R814fs
c.2440_2441fs
2 papers
NM_001127208.3
p.S817_P818delFs
c.2450_2454del5
3 papers
NM_001127208.3
p.S817T
c.2449T>A
1 paper
NM_001127208.3
p.S817insFs
c.2450dupC
1 paper
NM_001127208.3
p.S817fs
c.2449_2450fs
1 paper
NM_001127208.3
p.P818delFs
c.2453delC
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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."