Varaico: Literature-Extracted Genetic Variants

Gene:HYLS1
Variant:p.C31R

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
4 papers
NM_001134793.2
p.C31R
c.91T>C
Surrounding Variants
1 paper
NM_001134793.2
p.H29P
c.86A>C
1 paper
NM_001134793.2
p.G37V
c.110G>T
1 paper
NM_001134793.2
p.R40G
c.118A>G
1 paper
NM_001134793.2
p.E42D
c.126A>T
1 paper
NM_001134793.2
p.L5P
c.14T>C
1 paper
NM_001134793.2
p.R61*
c.181C>T
1 paper
NM_001134793.2
p.Y70H
c.208T>C
1 paper
NM_001134793.2
p.P78L
c.233C>T
1 paper
NM_001134793.2
p.S120F
c.359C>T
1 paper
NM_001134793.2
p.E123*
c.367G>T
1 paper
NM_001134793.2
p.L135P
c.404T>C
1 paper
NM_001134793.2
p.V150G
c.449T>G
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