Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D1844H

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.D1844H
c.5530G>C
Surrounding Variants
1 paper
NM_001127208.3
p.D1844N
c.5530G>A
3 papers
NM_001127208.3
p.D1844G
c.5531A>G
2 papers
NM_001127208.3
p.N1843K
c.5529C>A
2 papers
NM_001127208.3
p.N1843K
c.5529C>G
1 paper
NM_001127208.3
p.N1843N
c.5529C>T
2 papers
NM_001127208.3
p.N1843S
c.5528A>G
1 paper
NM_001127208.3
p.E1845delFs
c.5533delG
1 paper
NM_001127208.3
p.N1843Y
c.5527A>T
1 paper
NM_001127208.3
p.E1845fs
c.5533_5534fs
1 paper
NM_001127208.3
p.E1845*
c.5533G>T
1 paper
NM_001127208.3
p.E1845fs
c.5533_5534fs
1 paper
NM_001127208.3
p.E1845G
c.5534A>G
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