Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S385fs

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
2 papers
NM_001127208.3
p.S385fs
c.1153_1154fs
Surrounding Variants
5 papers
NM_001127208.3
p.S385*
c.1154C>A
6 papers
NM_001127208.3
p.S385insFs
c.1154_1155ins5
4 papers
NM_001127208.3
p.S385*
c.1154C>G
1 paper
NM_001127208.3
p.S385delFs
c.1153delT
1 paper
NM_001127208.3
p.V386delFs
c.1156delG
1 paper
NM_001127208.3
p.V386_T388delFs
c.1156_1163del8
1 paper
NM_001127208.3
p.S384N
c.1151G>A
1 paper
NM_001127208.3
p.S384fs
c.1150_1151fs
1 paper
NM_001127208.3
p.S384C
c.1150A>T
1 paper
NM_001127208.3
p.S384delFs
c.1151delG
2 papers
NM_001127208.3
p.S384fs
c.1150_1151fs
4 papers
NM_001127208.3
p.V386L
c.1156G>C
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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."