Varaico: Literature-Extracted Genetic Variants

Gene:HYLS1
Variant:p.R272S

HYLS1

54 papers

RefSeq Summary

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been...

Pfam Domains

HYLS1_Caa 196–284UCSCHydrolethalus syndrome protein 1 C-terminus

Gene Aliases

HGNC Name

HYLS1 centriolar and ciliogenesis associated

HGNC Alias Symbol

FLJ32915

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001134793.2
p.R272S
c.816G>T
Surrounding Variants
1 paper
NM_001134793.2
p.R272S
c.816G>C
1 paper
NM_001134793.2
p.R280C
c.838C>T
1 paper
NM_001134793.2
p.Y264F
c.791A>T
1 paper
NM_001134793.2
p.Q256E
c.766C>G
1 paper
NM_001134793.2
p.E250fs
c.748_749fs
1 paper
NM_001134793.2
p.A249insFs
c.746dupC
1 paper
NM_001134793.2
p.R248Q
c.743G>A
1 paper
NM_001134793.2
p.M245fs
c.733_734fs
2 papers
NM_001134793.2
p.*300Y
c.900A>C
1 paper
NM_001134793.2
p.*300Y
c.900A>T
1 paper
NM_001134793.2
p.R227C
c.679C>T
2 papers
NM_001134793.2
p.R221P
c.662G>C
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