Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1079T

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.P1079T
c.3235C>A
Surrounding Variants
1 paper
NM_001127208.3
p.P1079L
c.3236C>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
1 paper
NM_001127208.3
p.A1080fs
c.3238_3239fs
1 paper
NM_001127208.3
p.H1077Q
c.3231C>G
1 paper
NM_001127208.3
p.A1080G
c.3239C>G
1 paper
NM_001127208.3
p.A1080V
c.3239C>T
1 paper
NM_001127208.3
p.H1077insFs
c.3230_3231ins4
1 paper
NM_001127208.3
p.H1077R
c.3230A>G
1 paper
NM_001127208.3
p.H1077fs
c.3229_3230fs
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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."