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.V61delFs

c.182delA

Surrounding Variants

7 papers

NM_194292.3

p.I62T

c.185T>C

1 paper

NM_194292.3

p.N59S

c.176A>G

1 paper

NM_194292.3

p.D66N

c.196G>A

1 paper

NM_194292.3

p.L57F

c.171A>T

1 paper

NM_194292.3

p.L57F

c.171A>C

1 paper

NM_194292.3

p.L57insFs

c.170_171insT

2 papers

NM_194292.3

p.L57fs

c.169_170fs

1 paper

NM_194292.3

p.L57fs

c.169_170fs

1 paper

NM_194292.3

p.F56S

c.167T>C

1 paper

NM_194292.3

p.P54T

c.160C>A

1 paper

NM_194292.3

p.D50E

c.150T>A

5 papers

NM_194292.3

p.K42_D43Splc

c.127-13A>G