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.Y2990C

c.8969A>G

Surrounding Variants

1 paper

NM_020821.3

p.S2993Splc

c.8978+1G>A

1 paper

NM_020821.3

p.H2961Y

c.8881C>T

1 paper

NM_020821.3

p.D2955_V2956del2

c.8863_8867del6

1 paper

NM_020821.3

p.D2955_V2956delFs

c.8865_8866delCA

1 paper

NM_020821.3

p.V2954L

c.8860G>C

1 paper

NM_020821.3

p.G2951V

c.8852G>T

1 paper

NM_020821.3

p.N2949D

c.8845A>G

1 paper

NM_020821.3

p.L2948_N2949Splc

c.8844+6T>A

1 paper

NM_020821.3

p.L2948L

c.8844G>A

1 paper

NM_020821.3

p.D2947N

c.8839G>A

1 paper

NM_020821.3

p.R2936*

c.8806C>T

5 papers

NM_020821.3

p.S2913N

c.8738G>A