Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A215P

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.A215P
c.643G>C
Surrounding Variants
7 papers
NM_001127208.3
p.A215V
c.644C>T
1 paper
NM_001127208.3
p.A215_E224del10
c.643_671del30
1 paper
NM_001127208.3
p.S214F
c.641C>T
1 paper
NM_001127208.3
p.S214_K228del0
c.642_683del42
1 paper
NM_001127208.3
p.S214A
c.640T>G
1 paper
NM_001127208.3
p.S214fs
c.640_641fs
1 paper
NM_001127208.3
p.S217insFs
c.649dupT
1 paper
NM_001127208.3
p.S216F
c.647C>T
1 paper
NM_001127208.3
p.V213_S214insFs
c.639_640insA
1 paper
NM_001127208.3
p.S214_K228del15
c.640_683del45
3 papers
NM_001127208.3
p.V213fs
c.637_638fs
1 paper
NM_001127208.3
p.V213_S214insT
c.637_641ins3
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