Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D1427Y

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
3 papers
NM_001127208.3
p.D1427Y
c.4279G>T
Surrounding Variants
1 paper
NM_001127208.3
p.D1427N
c.4279G>A
1 paper
NM_001127208.3
p.D1427fs
c.4279_4280fs
1 paper
NM_001127208.3
p.D1427V
c.4280A>T
1 paper
NM_001127208.3
p.D1427delFs
c.4281delT
3 papers
NM_001127208.3
p.V1426M
c.4276G>A
1 paper
NM_001127208.3
p.V1426L
c.4276G>C
2 papers
NM_001127208.3
p.E1428fs
c.4282_4283fs
1 paper
NM_001127208.3
p.V1426fs
c.4276_4277fs
1 paper
NM_001127208.3
p.V1426L
c.4276G>T
1 paper
NM_001127208.3
p.E1428*
c.4282G>T
1 paper
NM_001127208.3
p.D1427_E1428delFs
c.4279_4282del4
1 paper
NM_001127208.3
p.D1425E
c.4275C>A
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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."