Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V74V

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.V74V
c.222G>C
Surrounding Variants
1 paper
NM_001127208.3
p.V74L
c.220G>C
1 paper
NM_001127208.3
p.V74L
c.220G>T
1 paper
NM_001127208.3
p.S75delFs
c.225delT
2 papers
NM_001127208.3
p.V74fs
c.220_221fs
1 paper
NM_001127208.3
p.S75R
c.225T>A
1 paper
NM_001127208.3
p.R73R
c.219T>C
2 papers
NM_001127208.3
p.V74insFs
c.220_221insAG
1 paper
NM_001127208.3
p.P76_T79delFs
c.227_236del10
1 paper
NM_001127208.3
p.V74delFs
c.220delG
1 paper
NM_001127208.3
p.P76_D77ins4
c.226_230ins12
1 paper
NM_001127208.3
p.P76A
c.226C>G
1 paper
NM_001127208.3
p.P76S
c.226C>T
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