Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1974_T1975insA

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.R1974_T1975insA
c.5920_5924ins3
Surrounding Variants
4 papers
NM_001127208.3
p.R1974M
c.5921G>T
1 paper
NM_001127208.3
p.T1975_M1976del2
c.5923_5927del6
1 paper
NM_001127208.3
p.T1975_M1976delFs
c.5924_5928del5
6 papers
NM_001127208.3
p.E1973K
c.5917G>A
1 paper
NM_001127208.3
p.A1972T
c.5914G>A
1 paper
NM_001127208.3
p.A1972P
c.5914G>C
1 paper
NM_001127208.3
p.A1972S
c.5914G>T
1 paper
NM_001127208.3
p.L1971R
c.5912T>G
1 paper
NM_001127208.3
p.L1971fs
c.5911_5912fs
1 paper
NM_001127208.3
p.S1970F
c.5909C>T
2 papers
NM_001127208.3
p.V1978M
c.5932G>A
1 paper
NM_001127208.3
p.V1978L
c.5932G>C
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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."