Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1857L

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.P1857L
c.5570C>T
Surrounding Variants
1 paper
NM_001127208.3
p.P1857H
c.5570C>A
4 papers
NM_001127208.3
p.D1858fs
c.5572_5573fs
1 paper
NM_001127208.3
p.D1858E
c.5574C>A
1 paper
NM_001127208.3
p.D1858E
c.5574C>G
1 paper
NM_001127208.3
p.D1856Y
c.5566G>T
1 paper
NM_001127208.3
p.I1859fs
c.5575_5576fs
2 papers
NM_001127208.3
p.I1859insFs
c.5575_5576insT
1 paper
NM_001127208.3
p.I1859V
c.5575A>G
2 papers
NM_001127208.3
p.I1859fs
c.5575_5576fs
1 paper
NM_001127208.3
p.I1859T
c.5576T>C
1 paper
NM_001127208.3
p.D1856delFs
c.5566delG
1 paper
NM_001127208.3
p.L1855fs
c.5563_5564fs
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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."