Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D77D

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.D77D
c.231C>T
Surrounding Variants
1 paper
NM_001127208.3
p.F78insFs
c.234dupT
2 papers
NM_001127208.3
p.F78delFs
c.234delT
2 papers
NM_001127208.3
p.F78I
c.232T>A
1 paper
NM_001127208.3
p.F78fs
c.232_233fs
1 paper
NM_001127208.3
p.D77fs
c.229_230fs
2 papers
NM_001127208.3
p.T79fs
c.235_236fs
1 paper
NM_001127208.3
p.T79delFs
c.236delC
1 paper
NM_001127208.3
p.P76L
c.227C>T
1 paper
NM_001127208.3
p.P76_D77ins4
c.226_230ins12
1 paper
NM_001127208.3
p.P76A
c.226C>G
1 paper
NM_001127208.3
p.P76S
c.226C>T
1 paper
NM_001127208.3
p.T79I
c.236C>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."