Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E807fs

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.E807fs
c.2419_2420fs
Surrounding Variants
1 paper
NM_001127208.3
p.E807*
c.2419G>T
1 paper
NM_001127208.3
p.E808insFs
c.2422dupG
1 paper
NM_001127208.3
p.E807_Q810insFs
c.2421_2428dup8
2 papers
NM_001127208.3
p.E808delFs
c.2422delG
1 paper
NM_001127208.3
p.E807D
c.2421G>C
1 paper
NM_001127208.3
p.E807D
c.2421G>T
3 papers
NM_001127208.3
p.L806fs
c.2416_2417fs
1 paper
NM_001127208.3
p.E808fs
c.2422_2423fs
2 papers
NM_001127208.3
p.E808*
c.2422G>T
1 paper
NM_001127208.3
p.E808delFs
c.2424delA
1 paper
NM_001127208.3
p.L806delFs
c.2416delC
1 paper
NM_001127208.3
p.G805R
c.2413G>A
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