Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I331insFs

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
2 papers
NM_001127208.3
p.I331insFs
c.993dupA
Surrounding Variants
1 paper
NM_001127208.3
p.I331R
c.992T>G
1 paper
NM_001127208.3
p.I331L
c.991A>C
1 paper
NM_001127208.3
p.I331L
c.991A>T
2 papers
NM_001127208.3
p.I331delFs
c.992delT
1 paper
NM_001127208.3
p.I331fs
c.991_992fs
1 paper
NM_001127208.3
p.I331_C332del1
c.992_994delTAT
1 paper
NM_001127208.3
p.C332fs
c.994_995fs
1 paper
NM_001127208.3
p.C332fs
c.994_995fs
1 paper
NM_001127208.3
p.C332Y
c.995G>A
1 paper
NM_001127208.3
p.C332insFs
c.996dupC
2 papers
NM_001127208.3
p.P333delFs
c.998delC
3 papers
NM_001127208.3
p.C332*
c.996C>A
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