Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1556Y

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.S1556Y
c.4667C>A
Surrounding Variants
1 paper
NM_001127208.3
p.S1556C
c.4667C>G
1 paper
NM_001127208.3
p.V1557delFs
c.4669_4670delGT
1 paper
NM_001127208.3
p.S1556T
c.4666T>A
1 paper
NM_001127208.3
p.S1556P
c.4666T>C
3 papers
NM_001127208.3
p.S1556fs
c.4666_4667fs
1 paper
NM_001127208.3
p.V1557_N1558delFs
c.4669_4672del4
2 papers
NM_001127208.3
p.V1557fs
c.4669_4670fs
1 paper
NM_001127208.3
p.S1556insFs
c.4667_4668dupCT
2 papers
NM_001127208.3
p.V1557fs
c.4669_4670fs
1 paper
NM_001127208.3
p.E1555A
c.4664A>C
2 papers
NM_001127208.3
p.E1555V
c.4664A>T
2 papers
NM_001127208.3
p.V1557D
c.4670T>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."