Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G1647delFs

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.G1647delFs
c.4940delG
Surrounding Variants
1 paper
NM_001127208.3
p.L1646P
c.4937T>C
1 paper
NM_001127208.3
p.L1646fs
c.4936_4937fs
1 paper
NM_001127208.3
p.G1647fs
c.4939_4940fs
1 paper
NM_001127208.3
p.G1647fs
c.4939_4940fs
2 papers
NM_001127208.3
p.Y1645*
c.4935T>A
1 paper
NM_001127208.3
p.Y1645Y
c.4935T>C
2 papers
NM_001127208.3
p.Y1645*
c.4935T>G
1 paper
NM_001127208.3
p.G1647V
c.4940G>T
1 paper
NM_001127208.3
p.Y1645N
c.4933T>A
2 papers
NM_001127208.3
p.Y1645fs
c.4933_4934fs
1 paper
NM_001127208.3
p.S1648A
c.4942T>G
1 paper
NM_001127208.3
p.S1648delFs
c.4944delC
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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."