Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E178*

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
5 papers
NM_001127208.3
p.E178*
c.532G>T
Surrounding Variants
1 paper
NM_001127208.3
p.E178_L179ins0
c.532_537dup6
1 paper
NM_001127208.3
p.P177P
c.531A>T
1 paper
NM_001127208.3
p.P177R
c.530C>G
1 paper
NM_001127208.3
p.P177fs
c.529_530fs
1 paper
NM_001127208.3
p.P177S
c.529C>T
1 paper
NM_001127208.3
p.P177fs
c.529_530fs
1 paper
NM_001127208.3
p.N176K
c.528T>A
1 paper
NM_001127208.3
p.N176K
c.528T>G
1 paper
NM_001127208.3
p.P177delFs
c.530delC
1 paper
NM_001127208.3
p.P177_E178del2
c.529_533del6
2 papers
NM_001127208.3
p.N176S
c.527A>G
1 paper
NM_001127208.3
p.N176I
c.527A>T
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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."