Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I490fs

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.I490fs
c.1468_1469fs
Surrounding Variants
1 paper
NM_001127208.3
p.I490delFs
c.1469_1470delTA
1 paper
NM_001127208.3
p.I490M
c.1470A>G
11 papers
NM_001127208.3
p.Q491*
c.1471C>T
1 paper
NM_001127208.3
p.Q491delFs
c.1472delA
1 paper
NM_001127208.3
p.Q491fs
c.1471_1472fs
1 paper
NM_001127208.3
p.T492_A493del2
c.1474_1478del6
2 papers
NM_001127208.3
p.T492S
c.1474A>T
2 papers
NM_001127208.3
p.T492S
c.1475C>G
1 paper
NM_001127208.3
p.R487T
c.1460G>C
1 paper
NM_001127208.3
p.R487M
c.1460G>T
1 paper
NM_001127208.3
p.R487fs
c.1459_1460fs
1 paper
NM_001127208.3
p.R487G
c.1459A>G
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