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.Q1063P

c.3188A>C

Surrounding Variants

1 paper

NM_020821.3

p.N1066Y

c.3196A>T

1 paper

NM_020821.3

p.N1066insFs

c.3197dupA

1 paper

NM_020821.3

p.N1066delFs

c.3197delT

1 paper

NM_020821.3

p.S1067S

c.3201A>C

2 papers

NM_020821.3

p.I1050V

c.3148A>G

1 paper

NM_020821.3

p.V1033V

c.3099C>T

3 papers

NM_020821.3

p.A1072Splc

c.3215-1G>T

1 paper

NM_020821.3

p.S1076fs

c.3226_3227fs

2 papers

NM_020821.3

p.D1078D

c.3234T>C

1 paper

NM_020821.3

p.E1100K

c.3298G>A

1 paper

NM_020821.3

p.F1005C

c.3014T>G

1 paper

NM_020821.3

p.S1114_S1115del2

c.3340_3344del6