Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Y1128*

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
4 papers
NM_001127208.3
p.Y1128*
c.3384T>A
Surrounding Variants
5 papers
NM_001127208.3
p.Y1128*
c.3384T>G
4 papers
NM_001127208.3
p.Y1128insFs
c.3384dupT
1 paper
NM_001127208.3
p.Y1128_D1129insFs
c.3384_3385insTT
1 paper
NM_001127208.3
p.Y1128_D1129delFs
c.3384_3385delTG
1 paper
NM_001127208.3
p.Y1128_V1136del0
c.3384_3407del24
1 paper
NM_001127208.3
p.D1129fs
c.3385_3386fs
1 paper
NM_001127208.3
p.D1129insFs
c.3385_3386ins4
3 papers
NM_001127208.3
p.D1129Y
c.3385G>T
3 papers
NM_001127208.3
p.D1129fs
c.3385_3386fs
1 paper
NM_001127208.3
p.F1130delFs
c.3389delT
3 papers
NM_001127208.3
p.Y1128fs
c.3382_3383fs
1 paper
NM_001127208.3
p.Y1128_D1129delFs
c.3383_3387del5
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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."