Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K900N

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.K900N
c.2700A>C
Surrounding Variants
1 paper
NM_001127208.3
p.K900N
c.2700A>T
1 paper
NM_001127208.3
p.N901S
c.2702A>G
2 papers
NM_001127208.3
p.K900*
c.2698A>T
1 paper
NM_001127208.3
p.K900fs
c.2698_2699fs
4 papers
NM_001127208.3
p.Y899*
c.2697T>A
2 papers
NM_001127208.3
p.N901K
c.2703T>A
4 papers
NM_001127208.3
p.Y899*
c.2697T>G
2 papers
NM_001127208.3
p.N901K
c.2703T>G
1 paper
NM_001127208.3
p.N901insFs
c.2702dupA
1 paper
NM_001127208.3
p.R902_Q904insFs
c.2705_2711dup7
1 paper
NM_001127208.3
p.K900del1
c.2698_2699delAAA
1 paper
NM_001127208.3
p.R902fs
c.2704_2705fs
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