Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1828L

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
2 papers
NM_001127208.3
p.Q1828L
c.5483A>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q1828K
c.5482C>A
12 papers
NM_001127208.3
p.Q1828*
c.5482C>T
1 paper
NM_001127208.3
p.Q1828fs
c.5482_5483fs
1 paper
NM_001127208.3
p.P1829delFs
c.5486delC
2 papers
NM_001127208.3
p.P1829S
c.5485C>T
1 paper
NM_001127208.3
p.P1829_L1832delFs
c.5487_5494del8
1 paper
NM_001127208.3
p.K1827N
c.5481G>C
1 paper
NM_001127208.3
p.K1827N
c.5481G>T
1 paper
NM_001127208.3
p.K1827T
c.5480A>C
1 paper
NM_001127208.3
p.K1827_Q1828delFs
c.5481_5482delGC
2 papers
NM_001127208.3
p.P1829_L1830insFs
c.5487_5488insT
2 papers
NM_001127208.3
p.K1827*
c.5479A>T
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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."