Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A1080G

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.A1080G
c.3239C>G
Surrounding Variants
1 paper
NM_001127208.3
p.A1080V
c.3239C>T
1 paper
NM_001127208.3
p.A1080fs
c.3238_3239fs
1 paper
NM_001127208.3
p.P1079L
c.3236C>T
2 papers
NM_001127208.3
p.L1081*
c.3242T>A
1 paper
NM_001127208.3
p.L1081S
c.3242T>C
2 papers
NM_001127208.3
p.L1081*
c.3242T>G
1 paper
NM_001127208.3
p.P1079T
c.3235C>A
2 papers
NM_001127208.3
p.E1082*
c.3244G>T
3 papers
NM_001127208.3
p.T1078I
c.3233C>T
1 paper
NM_001127208.3
p.T1078fs
c.3232_3233fs
1 paper
NM_001127208.3
p.T1078P
c.3232A>C
1 paper
NM_001127208.3
p.P1079delFs
c.3236delC
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."