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

10 papers

NM_020821.3

p.R153H

c.458G>A

Surrounding Variants

3 papers

NM_020821.3

p.R153C

c.457C>T

1 paper

NM_020821.3

p.R151R

c.453T>A

1 paper

NM_020821.3

p.K161N

c.483G>T

1 paper

NM_020821.3

p.K161N

c.483G>C

1 paper

NM_020821.3

p.P163H

c.488C>A

1 paper

NM_020821.3

p.R169C

c.505C>T

1 paper

NM_020821.3

p.K171E

c.511A>G

1 paper

NM_020821.3

p.D172Splc

c.515-2A>T

1 paper

NM_020821.3

p.K178delFs

c.532delT

1 paper

NM_020821.3

p.K185R

c.554A>G

1 paper

NM_020821.3

p.Y205N

c.613T>A

1 paper

NM_020821.3

p.R214W

c.640C>T