Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C1374W

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.C1374W
c.4122T>G
Surrounding Variants
1 paper
NM_001127208.3
p.C1374*
c.4122T>A
10 papers
NM_001127208.3
p.C1374Y
c.4121G>A
1 paper
NM_001127208.3
p.C1374F
c.4121G>T
1 paper
NM_001127208.3
p.L1375fs
c.4123_4124fs
5 papers
NM_001127208.3
p.C1374R
c.4120T>C
2 papers
NM_001127208.3
p.C1374G
c.4120T>G
2 papers
NM_001127208.3
p.L1375W
c.4124T>G
2 papers
NM_001127208.3
p.C1374fs
c.4120_4121fs
2 papers
NM_001127208.3
p.A1373E
c.4118C>A
2 papers
NM_001127208.3
p.A1373V
c.4118C>T
1 paper
NM_001127208.3
p.A1373_L1375delFs
c.4119_4123del5
9 papers
NM_001127208.3
p.D1376N
c.4126G>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."