Varaico: Literature-Extracted Genetic Variants

SASS6

78 papers

RefSeq Summary

The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein formi...

Pfam Domains

SAS-6_Naa 4–141UCSCCentriolar protein SAS N-terminal domain

Sas6_CCaa 146–173UCSCSas6/XLF/XRCC4 coiled-coil domain

Gene Aliases

HGNC Name

SAS-6 centriolar assembly protein

HGNC Alias Symbols

DKFZp761A078; SAS-6; FLJ22097; SAS6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_194292.3

p.D623Splc

c.1867+2T>A

Surrounding Variants

1 paper

NM_194292.3

p.R612G

c.1834C>G

1 paper

NM_194292.3

p.Q625H

c.1875G>T

1 paper

NM_194292.3

p.Q625H

c.1875G>C

1 paper

NM_194292.3

p.L654*

c.1961T>G

1 paper

NM_194292.3

p.L654*

c.1961T>A