Varaico: Literature-Extracted Genetic Variants

Gene:DNPH1
Variant:p.G102G

DNPH1

17 papers

RefSeq Summary

This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosi...

Pfam Domains

Nuc_deoxyrib_traa 23–134UCSCNucleoside 2-deoxyribosyltransferase

Gene Aliases

HGNC Name

2'-deoxynucleoside 5'-phosphate N-hydrolase 1

HGNC Previous Symbol

C6orf108

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006443.3
p.G102G
c.306C>G
Surrounding Variants
2 papers
NM_006443.3
p.E104Q
c.310G>C
1 paper
NM_006443.3
p.E104A
c.311A>C
1 paper
NM_006443.3
p.L105P
c.314T>C
1 paper
NM_006443.3
p.N112T
c.335A>C
1 paper
NM_006443.3
p.R114Q
c.341G>A
1 paper
NM_006443.3
p.D88N
c.262G>A
1 paper
NM_006443.3
p.S128L
c.383C>T
1 paper
NM_006443.3
p.D136N
c.406G>A
1 paper
NM_006443.3
p.D73A
c.218A>C
1 paper
NM_006443.3
p.G66fs
c.196_197fs
1 paper
NM_006443.3
p.E159Q
c.475G>C
1 paper
NM_006443.3
p.E159K
c.475G>A
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