Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A1505S

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.A1505S
c.4513G>T
Surrounding Variants
14 papers
NM_001127208.3
p.A1505T
c.4513G>A
1 paper
NM_001127208.3
p.A1505V
c.4514C>T
1 paper
NM_001127208.3
p.N1504S
c.4511A>G
2 papers
NM_001127208.3
p.A1505_S1506del2
c.4513_4517del6
1 paper
NM_001127208.3
p.N1504fs
c.4510_4511fs
1 paper
NM_001127208.3
p.S1506T
c.4517G>C
1 paper
NM_001127208.3
p.Q1507delFs
c.4519delC
4 papers
NM_001127208.3
p.Q1507fs
c.4519_4520fs
7 papers
NM_001127208.3
p.Q1507*
c.4519C>T
1 paper
NM_001127208.3
p.N1504delFs
c.4511delA
4 papers
NM_001127208.3
p.A1508delFs
c.4522delG
1 paper
NM_001127208.3
p.A1508_K1509del2
c.4522_4526del6
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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."