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.N1205Y

c.3613A>T

Surrounding Variants

1 paper

NM_020821.3

p.A1216V

c.3647C>T

1 paper

NM_020821.3

p.A1217T

c.3649G>A

2 papers

NM_020821.3

p.T1218A

c.3652A>G

1 paper

NM_020821.3

p.A1221V

c.3662C>T

1 paper

NM_020821.3

p.L1201_N1202Splc

c.3604-44C>T

1 paper

NM_020821.3

p.R1238H

c.3713G>A

1 paper

NM_020821.3

p.I1241L

c.3721A>C

1 paper

NM_020821.3

p.I1243T

c.3728T>C

1 paper

NM_020821.3

p.R1270G

c.3808A>G

1 paper

NM_020821.3

p.Y1283*

c.3849C>G

1 paper

NM_020821.3

p.Y1283*

c.3849C>A

1 paper

NM_020821.3

p.L1296P

c.3887T>C