Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1416R

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.H1416R
c.4247A>G
Surrounding Variants
1 paper
NM_001127208.3
p.H1416P
c.4247A>C
1 paper
NM_001127208.3
p.H1416N
c.4246C>A
1 paper
NM_001127208.3
p.H1416_V1417insFs
c.4248_4249insA
2 papers
NM_001127208.3
p.H1416D
c.4246C>G
3 papers
NM_001127208.3
p.H1416Y
c.4246C>T
1 paper
NM_001127208.3
p.H1416fs
c.4246_4247fs
1 paper
NM_001127208.3
p.H1416_Y1421delFs
c.4247_4262del16
2 papers
NM_001127208.3
p.V1417I
c.4249G>A
12 papers
NM_001127208.3
p.V1417F
c.4249G>T
2 papers
NM_001127208.3
p.V1417D
c.4250T>A
2 papers
NM_001127208.3
p.L1415R
c.4244T>G
1 paper
NM_001127208.3
p.V1417G
c.4250T>G
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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."