Varaico: Literature-Extracted Genetic Variants

Gene:NUS1
Variant:p.L18fs

NUS1

93 papers

RefSeq Summary

This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The ...

Pfam Domains

Prenyltransfaa 170–292UCSCPutative undecaprenyl diphosphate synthase

Gene Aliases

HGNC Name

NUS1 dehydrodolichyl diphosphate synthase subunit

HGNC Previous Symbol

C6orf68

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_138459.5
p.L18fs
c.52_53fs
Surrounding Variants
1 paper
NM_138459.5
p.L18delFs
c.52_53delCT
2 papers
NM_138459.5
p.C17_L18delFs
c.51_54del4
2 papers
NM_138459.5
p.L22_T23insA
c.64_68ins3
1 paper
NM_138459.5
p.L22F
c.64C>T
1 paper
NM_138459.5
p.L12delFs
c.35delT
1 paper
NM_138459.5
p.L12fs
c.34_35fs
2 papers
NM_138459.5
p.W25_L26del2
c.73_77del6
1 paper
NM_138459.5
p.V11delFs
c.32delT
2 papers
NM_138459.5
p.W25*
c.74G>A
1 paper
NM_138459.5
p.W25delins
c.74_75delinsAA
2 papers
NM_138459.5
p.W25*
c.75G>A
1 paper
NM_138459.5
p.W25C
c.75G>C
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