Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1214P

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
3 papers
NM_001127208.3
p.R1214P
c.3641G>C
Surrounding Variants
21 papers
NM_001127208.3
p.R1214Q
c.3641G>A
2 papers
NM_001127208.3
p.R1214L
c.3641G>T
1 paper
NM_001127208.3
p.R1214G
c.3640C>G
47 papers
NM_001127208.3
p.R1214W
c.3640C>T
10 papers
NM_001127208.3
p.E1215*
c.3643G>T
1 paper
NM_001127208.3
p.E1215fs
c.3643_3644fs
1 paper
NM_001127208.3
p.R1214_T1220del7
c.3640_3659del21
1 paper
NM_001127208.3
p.E1215V
c.3644A>T
6 papers
NM_001127208.3
p.V1213M
c.3637G>A
1 paper
NM_001127208.3
p.V1213L
c.3637G>C
1 paper
NM_001127208.3
p.E1215D
c.3645G>C
1 paper
NM_001127208.3
p.V1213_R1214insCT
c.3637_3641ins6
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."