Varaico: Literature-Extracted Genetic Variants

SACS

385 papers

RefSeq Summary

This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, als...

Pfam Domains

ubiquitinaa 22–79UCSCUbiquitin family

SACSaa 93–331UCSCSacsin domain

SACSaa 1457–1710UCSCSacsin domain

SACSaa 2525–2764UCSCSacsin domain

HEPNaa 4447–4573UCSCHEPN domain

Gene Aliases

HGNC Name

sacsin molecular chaperone

HGNC Alias Symbols

ARSACS; KIAA0730; DKFZp686B15167; DNAJC29; SPAX6; PPP1R138

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014363.6

p.T727S

c.2179A>T

Surrounding Variants

1 paper

NM_014363.6

p.T727S

c.2180C>G

1 paper

NM_014363.6

p.Q726L

c.2177A>T

16 papers

NM_014363.6

p.R728*

c.2182C>T

1 paper

NM_014363.6

p.R728R

c.2184A>G

1 paper

NM_014363.6

p.L721L

c.2163A>G

1 paper

NM_014363.6

p.H716Y

c.2146C>T

1 paper

NM_014363.6

p.K714R

c.2141A>G

2 papers

NM_014363.6

p.R707fs

c.2119_2120fs

1 paper

NM_014363.6

p.G706insFs

c.2117dupG

1 paper

NM_014363.6

p.E705_G706insFs

c.2115_2116insC

1 paper

NM_014363.6

p.E705V

c.2114A>T

1 paper

NM_014363.6

p.F701_P702del2

c.2101_2105del6