Varaico: Literature-Extracted Genetic Variants

VPS18

76 papers

RefSeq Summary

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sort...

Pfam Domains

Pep3_Vps18aa 42–391UCSCPep3/Vps18/deep orange beta-propeller domain

VPS18_RING_Caa 847–954UCSCVPS18 RING C-terminal domain

Gene Aliases

HGNC Name

VPS18 core subunit of CORVET and HOPS complexes

HGNC Alias Symbols

KIAA1475; PEP3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 76 variants

4 papers

NM_020857.3

p.R675W

c.2023C>T

3 papers

NM_020857.3

p.A98T

c.292G>A

2 papers

NM_020857.3

p.R48H

c.143G>A

1 paper

NM_020857.3

p.L12P

c.35T>C

1 paper

NM_020857.3

p.G26D

c.77G>A

1 paper

NM_020857.3

p.S30A

c.88T>G

1 paper

NM_020857.3

p.G31A

c.92G>C

1 paper

NM_020857.3

p.R56H

c.167G>A

1 paper

NM_020857.3

p.T75K

c.224C>A

1 paper

NM_020857.3

p.R78Splc

c.234-10G>A

1 paper

NM_020857.3

p.N88S

c.263A>G

1 paper

NM_020857.3

p.K99E

c.295A>G