Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P41insFs

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.P41insFs
c.121dupC
Surrounding Variants
1 paper
NM_001127208.3
p.P41S
c.121C>T
1 paper
NM_001127208.3
p.L40Q
c.119T>A
1 paper
NM_001127208.3
p.L40R
c.119T>G
1 paper
NM_001127208.3
p.L40_P41insT
c.118_122ins3
1 paper
NM_001127208.3
p.L40V
c.118C>G
1 paper
NM_001127208.3
p.L40L
c.118C>T
1 paper
NM_001127208.3
p.P41L
c.122C>T
1 paper
NM_001127208.3
p.E42K
c.124G>A
1 paper
NM_001127208.3
p.E42Q
c.124G>C
1 paper
NM_001127208.3
p.E42ins5
c.124_125ins15
1 paper
NM_001127208.3
p.E42A
c.125A>C
1 paper
NM_001127208.3
p.P39S
c.115C>T
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