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

1–12 of 82 variants

9 papers

NM_194292.3

p.A259V

c.776C>T

7 papers

NM_194292.3

p.I62T

c.185T>C

5 papers

NM_194292.3

p.K42_D43Splc

c.127-13A>G

5 papers

NM_194292.3

p.D623Splc

c.1867+2T>A

4 papers

NM_194292.3

p.E256D

c.768G>T

4 papers

NM_194292.3

p.E256D

c.768G>C

3 papers

NM_194292.3

p.L380P

c.1139T>C

3 papers

NM_194292.3

p.T408S

c.1222A>T

3 papers

NM_194292.3

p.T408S

c.1223C>G

3 papers

NM_194292.3

p.K558_V559Splc

c.1674+3A>G

2 papers

NM_194292.3

p.S29N

c.86G>A

2 papers

NM_194292.3

p.L57fs

c.169_170fs