Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1110E

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.K1110E
c.3328A>G
Surrounding Variants
1 paper
NM_001127208.3
p.K1110fs
c.3328_3329fs
1 paper
NM_001127208.3
p.K1110_L1111del2
c.3328_3332del6
2 papers
NM_001127208.3
p.S1109F
c.3326C>T
1 paper
NM_001127208.3
p.S1109T
c.3325T>A
1 paper
NM_001127208.3
p.S1109P
c.3325T>C
4 papers
NM_001127208.3
p.L1111fs
c.3331_3332fs
2 papers
NM_001127208.3
p.L1111fs
c.3331_3332fs
1 paper
NM_001127208.3
p.L1112_T1114delFs
c.3336_3342del7
4 papers
NM_001127208.3
p.L1111*
c.3332T>A
4 papers
NM_001127208.3
p.L1111*
c.3332T>G
1 paper
NM_001127208.3
p.L1111_L1112delFs
c.3333_3334delAC
1 paper
NM_001127208.3
p.D1113_I1116delFs
c.3337_3346del10
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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."