Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1904Q

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.H1904Q
c.5712T>A
Surrounding Variants
5 papers
NM_001127208.3
p.H1904Q
c.5712T>G
1 paper
NM_001127208.3
p.H1904insFs
c.5712dupT
39 papers
NM_001127208.3
p.H1904R
c.5711A>G
9 papers
NM_001127208.3
p.K1905E
c.5713A>G
2 papers
NM_001127208.3
p.H1904L
c.5711A>T
2 papers
NM_001127208.3
p.K1905*
c.5713A>T
2 papers
NM_001127208.3
p.K1905fs
c.5713_5714fs
2 papers
NM_001127208.3
p.H1904D
c.5710C>G
3 papers
NM_001127208.3
p.H1904Y
c.5710C>T
1 paper
NM_001127208.3
p.S1906fs
c.5716_5717fs
1 paper
NM_001127208.3
p.S1906_E1918del0
c.5717_5752del36
1 paper
NM_001127208.3
p.Q1903K
c.5707C>A
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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."