Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1394_V1395Splc

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.L1394_V1395Splc
c.4182+9G>A
Surrounding Variants
1 paper
NM_001127208.3
p.L1394_V1395Splc
c.4182+2T>A
2 papers
NM_001127208.3
p.L1394_V1395Splc
c.4182+1G>A
1 paper
NM_001127208.3
p.L1394_V1395Splc
c.4182+1G>T
1 paper
NM_001127208.3
p.L1394*
c.4181T>A
12 papers
NM_001127208.3
p.T1393I
c.4178C>T
1 paper
NM_001127208.3
p.T1393delFs
c.4179delA
1 paper
NM_001127208.3
p.T1393fs
c.4177_4178fs
1 paper
NM_001127208.3
p.T1393P
c.4177A>C
2 papers
NM_001127208.3
p.T1393A
c.4177A>G
6 papers
NM_001127208.3
p.S1392R
c.4176C>A
6 papers
NM_001127208.3
p.S1392R
c.4176C>G
6 papers
NM_001127208.3
p.S1392R
c.4174A>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."