Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V1949fs

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
3 papers
NM_001127208.3
p.V1949fs
c.5845_5846fs
Surrounding Variants
2 papers
NM_001127208.3
p.V1949fs
c.5845_5846fs
1 paper
NM_001127208.3
p.V1949A
c.5846T>C
1 paper
NM_001127208.3
p.K1950_R1951del2
c.5848_5852del6
1 paper
NM_001127208.3
p.K1950N
c.5850A>C
1 paper
NM_001127208.3
p.K1950N
c.5850A>T
1 paper
NM_001127208.3
p.K1947Q
c.5839A>C
2 papers
NM_001127208.3
p.R1951W
c.5851C>T
3 papers
NM_001127208.3
p.K1948insFs
c.5844dupA
2 papers
NM_001127208.3
p.K1948delFs
c.5844delA
1 paper
NM_001127208.3
p.R1951Q
c.5852G>A
1 paper
NM_001127208.3
p.P1953T
c.5857C>A
1 paper
NM_001127208.3
p.P1953S
c.5857C>T
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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."