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.S25T

c.73T>A

Surrounding Variants

1 paper

NM_020821.3

p.K24delFs

c.70delT

1 paper

NM_020821.3

p.L22Q

c.65T>A

1 paper

NM_020821.3

p.K28_L29insFs

c.84_85insGC

1 paper

NM_020821.3

p.E20K

c.58G>A

1 paper

NM_020821.3

p.G30insFs

c.89_90ins8

9 papers

NM_020821.3

p.Y18F

c.53A>T

1 paper

NM_020821.3

p.G16R

c.46G>C

1 paper

NM_020821.3

p.R13G

c.37C>G

1 paper

NM_020821.3

p.V7V

c.21C>G

1 paper

NM_020821.3

p.E4Fs

c.10delinsTATAGCTGTTATATAAAATTATTTAAFs

1 paper

NM_020821.3

p.M1R

c.2T>G

1 paper

NM_020821.3

p.M1T

c.2T>C