Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V1056fs

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.V1056fs
c.3166_3167fs
Surrounding Variants
1 paper
NM_001127208.3
p.V1056fs
c.3166_3167fs
1 paper
NM_001127208.3
p.V1056delFs
c.3168delT
1 paper
NM_001127208.3
p.V1056delFs
c.3166delG
1 paper
NM_001127208.3
p.K1055E
c.3163A>G
1 paper
NM_001127208.3
p.K1055*
c.3163A>T
1 paper
NM_001127208.3
p.E1057insFs
c.3170dupA
2 papers
NM_001127208.3
p.E1057fs
c.3169_3170fs
1 paper
NM_001127208.3
p.E1057_M1058ins5
c.3169_3173ins15
2 papers
NM_001127208.3
p.E1057*
c.3169G>T
1 paper
NM_001127208.3
p.E1057delFs
c.3170delA
1 paper
NM_001127208.3
p.K1055_V1056delFs
c.3163_3167del5
1 paper
NM_001127208.3
p.V1054delFs
c.3162delA
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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."