Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I2002V

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.I2002V
c.6004A>G
Surrounding Variants
1 paper
NM_001127208.3
p.I2002fs
c.6004_6005fs
1 paper
NM_001127208.3
p.Y2001*
c.6003T>A
1 paper
NM_001127208.3
p.Y2001*
c.6003T>G
1 paper
NM_001127208.3
p.I2002_*2003ins2
c.6006_6007ins6
2 papers
NM_001127208.3
p.R2000S
c.6000A>C
2 papers
NM_001127208.3
p.R2000S
c.6000A>T
3 papers
NM_001127208.3
p.R2000K
c.5999G>A
1 paper
NM_001127208.3
p.G1996W
c.5986G>T
1 paper
NM_001127208.3
p.T1995I
c.5984C>T
1 paper
NM_001127208.3
p.V1994I
c.5980G>A
3 papers
NM_001127208.3
p.R1993Q
c.5978G>A
1 paper
NM_001127208.3
p.R1993L
c.5978G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."