Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q383*

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
7 papers
NM_001127208.3
p.Q383*
c.1147C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q383_S384insCC
c.1147_1151ins6
1 paper
NM_001127208.3
p.Q383E
c.1147C>G
1 paper
NM_001127208.3
p.S384delFs
c.1150delA
1 paper
NM_001127208.3
p.S384fs
c.1150_1151fs
1 paper
NM_001127208.3
p.S384C
c.1150A>T
3 papers
NM_001127208.3
p.K382fs
c.1144_1145fs
1 paper
NM_001127208.3
p.S384delFs
c.1151delG
2 papers
NM_001127208.3
p.S384fs
c.1150_1151fs
1 paper
NM_001127208.3
p.S384N
c.1151G>A
6 papers
NM_001127208.3
p.S385insFs
c.1154_1155ins5
1 paper
NM_001127208.3
p.S385delFs
c.1153delT
1 paper
NM_001127208.3
p.F381S
c.1142T>C
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