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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SYS1

SYS1

7 papers

RefSeq Summary

SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009].

Pfam Domains

SYS1aa 5–148UCSCIntegral membrane protein S linking to the trans Golgi network

Gene Aliases

HGNC Name

SYS1 golgi trafficking protein

HGNC Previous Symbol

C20orf169

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr20:45365674 A>G

NM_033542.4

p.N73S

c.218A>G

SYS1

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:45365676 G>A

NM_033542.4

p.A74T

c.220G>A

SYS1

Exome: 0.0% (AC=23, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:45366966 T>C

NM_033542.4

p.F108L

c.322T>C

SYS1

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:45366968 C>A

NM_033542.4

p.F108L

c.324C>A

SYS1

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:45366968 C>G

NM_033542.4

p.F108L

c.324C>G

SYS1

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:45366988 C>T

NM_033542.4

p.S115L

c.344C>T

SYS1

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=7, hom=0)10 overlapping SVs

1 paper

chr20:45366990 G>A

NM_033542.4

p.A116T

c.346G>A

SYS1

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

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