Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1404Q

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.R1404Q
c.4211G>A
Surrounding Variants
3 papers
NM_001127208.3
p.R1404_E1405Fs
c.4211_4214delinsAATFs
1 paper
NM_001127208.3
p.R1404G
c.4210C>G
59 papers
NM_001127208.3
p.R1404*
c.4210C>T
1 paper
NM_001127208.3
p.R1404fs
c.4210_4211fs
1 paper
NM_001127208.3
p.R1404_E1405del1
c.4211_4213delGAG
1 paper
NM_001127208.3
p.R1404_F1406delFs
c.4211_4217del7
2 papers
NM_001127208.3
p.E1405Q
c.4213G>C
1 paper
NM_001127208.3
p.E1405fs
c.4213_4214fs
5 papers
NM_001127208.3
p.E1405*
c.4213G>T
2 papers
NM_001127208.3
p.N1403S
c.4208A>G
1 paper
NM_001127208.3
p.F1406fs
c.4216_4217fs
1 paper
NM_001127208.3
p.F1406_G1407delFs
c.4217_4221del5
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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."