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

1 paper

NM_194292.3

p.E412G

c.1235A>G

Surrounding Variants

1 paper

NM_194292.3

p.E412Q

c.1234G>C

3 papers

NM_194292.3

p.T408S

c.1223C>G

3 papers

NM_194292.3

p.T408S

c.1222A>T

1 paper

NM_194292.3

p.T396fs

c.1186_1187fs

1 paper

NM_194292.3

p.T396delFs

c.1187delG

1 paper

NM_194292.3

p.K388T

c.1163A>C

1 paper

NM_194292.3

p.E442*

c.1324G>T

3 papers

NM_194292.3

p.L380P

c.1139T>C

1 paper

NM_194292.3

p.A378V

c.1133C>T

1 paper

NM_194292.3

p.E370D

c.1110A>T

1 paper

NM_194292.3

p.E370D

c.1110A>C

1 paper

NM_194292.3

p.D335E

c.1005C>G