Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V1900A

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
5 papers
NM_001127208.3
p.V1900A
c.5699T>C
Surrounding Variants
2 papers
NM_001127208.3
p.V1900D
c.5699T>A
2 papers
NM_001127208.3
p.F1901delFs
c.5701delT
1 paper
NM_001127208.3
p.F1901delFs
c.5701_5702delTT
3 papers
NM_001127208.3
p.V1900I
c.5698G>A
1 paper
NM_001127208.3
p.V1900L
c.5698G>C
4 papers
NM_001127208.3
p.V1900F
c.5698G>T
1 paper
NM_001127208.3
p.F1901L
c.5701T>C
4 papers
NM_001127208.3
p.F1901fs
c.5701_5702fs
1 paper
NM_001127208.3
p.F1901fs
c.5701_5702fs
1 paper
NM_001127208.3
p.L1899H
c.5696T>A
1 paper
NM_001127208.3
p.L1899P
c.5696T>C
1 paper
NM_001127208.3
p.F1901S
c.5702T>C
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