Varaico: Literature-Extracted Genetic Variants

Gene:HYLS1

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
1–12 of 38 variants
21 papers
NM_001134793.2
p.D211G
c.632A>G
4 papers
NM_001134793.2
p.C31R
c.91T>C
2 papers
NM_001134793.2
p.R205*
c.613C>T
2 papers
NM_001134793.2
p.R221P
c.662G>C
2 papers
NM_001134793.2
p.*300Y
c.900A>C
1 paper
NM_001134793.2
p.L5P
c.14T>C
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.R61*
c.181C>T
1 paper
NM_001134793.2
p.Y70H
c.208T>C
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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."