Varaico: Literature-Extracted Genetic Variants

VPS13C

15q22.2 (UCSC)OMIM PanelApp GTEx

300 papers

Pfam Domains

VPS13_Naa 2–1598UCSCVPS13-like family N-terminal region

VPS13_Maa 1611–2407UCSCVPS13-like family middle region

VPS13_VABaa 2472–3018UCSCVacuolar-sorting associated protein 13, adaptor binding domain

VPS13_Caa 3594–3716UCSCIntermembrane lipid transfer protein VPS13, C-terminal

Gene Aliases

HGNC Name

vacuolar protein sorting 13 homolog C

HGNC Alias Symbols

FLJ20136; FLJ10381; KIAA1421; BLTP5C; PARK23

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020821.3

p.K821N

c.2463G>C

Surrounding Variants

1 paper

NM_020821.3

p.K821N

c.2463G>T

1 paper

NM_020821.3

p.M829V

c.2485A>G

3 papers

NM_020821.3

p.V806_S807ins4

c.2416_2420ins12

1 paper

NM_020821.3

p.V847E

c.2540T>A

1 paper

NM_017684.5

p.S806_I807ins4

c.2416_2420ins12

1 paper

NM_020821.3

p.G855V

c.2564G>T

1 paper

NM_020821.3

p.G859G

c.2577T>C

1 paper

NM_020821.3

p.L866S

c.2597T>C

1 paper

NM_020821.3

p.D868H

c.2602G>C

1 paper

NM_020821.3

p.E873Splc

c.2618-1G>A

1 paper

NM_020821.3

p.D876V

c.2627A>T

1 paper

NM_020821.3

p.E882D

c.2646A>T