Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q317H

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.Q317H
c.951G>C
Surrounding Variants
1 paper
NM_001127208.3
p.Q317H
c.951G>T
1 paper
NM_001127208.3
p.Q317_K318ins1
c.951_952insCTG
1 paper
NM_001127208.3
p.K318fs
c.952_953fs
1 paper
NM_001127208.3
p.K318R
c.953A>G
4 papers
NM_001127208.3
p.Q317fs
c.949_950fs
13 papers
NM_001127208.3
p.Q317*
c.949C>T
6 papers
NM_001127208.3
p.Q317fs
c.949_950fs
1 paper
NM_001127208.3
p.K318N
c.954A>C
1 paper
NM_001127208.3
p.K318N
c.954A>T
1 paper
NM_001127208.3
p.P319delFs
c.956delC
1 paper
NM_001127208.3
p.Q317ins5
c.949_950ins15
1 paper
NM_001127208.3
p.P319T
c.955C>A
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