Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L144delFs

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.L144delFs
c.431_432delTG
Surrounding Variants
3 papers
NM_001127208.3
p.L144*
c.431T>A
1 paper
NM_001127208.3
p.L144W
c.431T>G
1 paper
NM_001127208.3
p.D143delFs
c.429delT
1 paper
NM_001127208.3
p.S145del1
c.433_434delAGT
1 paper
NM_001127208.3
p.S145R
c.433A>C
8 papers
NM_001127208.3
p.D143N
c.427G>A
1 paper
NM_001127208.3
p.D143H
c.427G>C
2 papers
NM_001127208.3
p.D143fs
c.427_428fs
1 paper
NM_001127208.3
p.D143Y
c.427G>T
3 papers
NM_001127208.3
p.D143fs
c.427_428fs
6 papers
NM_001127208.3
p.S145N
c.434G>A
1 paper
NM_001127208.3
p.S142_D143delFs
c.426_427delCG
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