Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.M475I

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.M475I
c.1425G>A
Surrounding Variants
1 paper
NM_001127208.3
p.M475I
c.1425G>C
1 paper
NM_001127208.3
p.M475I
c.1425G>T
1 paper
NM_001127208.3
p.S477delFs
c.1429delT
1 paper
NM_001127208.3
p.L476fs
c.1426_1427fs
1 paper
NM_001127208.3
p.M475fs
c.1423_1424fs
1 paper
NM_001127208.3
p.M475fs
c.1423_1424fs
1 paper
NM_001127208.3
p.M475ins9
c.1423_1424ins27
4 papers
NM_001127208.3
p.P474L
c.1421C>T
2 papers
NM_001127208.3
p.S477delFs
c.1430delC
3 papers
NM_001127208.3
p.S477fs
c.1429_1430fs
1 paper
NM_001127208.3
p.P474_M475insA
c.1420_1424ins3
2 papers
NM_001127208.3
p.P474S
c.1420C>T
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