Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A204A

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.A204A
c.612A>G
Surrounding Variants
1 paper
NM_001127208.3
p.A204V
c.611C>T
1 paper
NM_001127208.3
p.K203K
c.609G>A
1 paper
NM_001127208.3
p.L206fs
c.616_617fs
1 paper
NM_001127208.3
p.L206_M207ins4
c.616_620ins12
1 paper
NM_001127208.3
p.L206_M207delFs
c.617_620del4
1 paper
NM_001127208.3
p.K203*
c.607A>T
2 papers
NM_001127208.3
p.L206R
c.617T>G
1 paper
NM_001127208.3
p.N202K
c.606C>A
1 paper
NM_001127208.3
p.N202K
c.606C>G
2 papers
NM_001127208.3
p.N202N
c.606C>T
1 paper
NM_001127208.3
p.N202S
c.605A>G
1 paper
NM_001127208.3
p.M207L
c.619A>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."