Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V1395E

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
3 papers
NM_001127208.3
p.V1395E
c.4184T>A
Surrounding Variants
1 paper
NM_001127208.3
p.V1395A
c.4184T>C
5 papers
NM_001127208.3
p.V1395I
c.4183G>A
2 papers
NM_001127208.3
p.V1395fs
c.4183_4184fs
1 paper
NM_001127208.3
p.V1395_C1396insFs
c.4185_4186dupAT
2 papers
NM_001127208.3
p.L1394_V1395Splc
c.4183-1G>A
1 paper
NM_001127208.3
p.L1394_V1395Splc
c.4183-1G>C
4 papers
NM_001127208.3
p.L1394_V1395Splc
c.4183-1G>T
1 paper
NM_001127208.3
p.C1396S
c.4186T>A
6 papers
NM_001127208.3
p.C1396R
c.4186T>C
3 papers
NM_001127208.3
p.C1396fs
c.4186_4187fs
1 paper
NM_001127208.3
p.L1394_V1395Splc
c.4183-2A>C
5 papers
NM_001127208.3
p.L1394_V1395Splc
c.4183-2A>G
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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."