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

1–12 of 580 variants

10 papers

NM_020821.3

p.R153H

c.458G>A

9 papers

NM_020821.3

p.Y18F

c.53A>T

8 papers

NM_020821.3

p.R3652*

c.10954C>T

7 papers

NM_020821.3

p.W395C

c.1185G>C

7 papers

NM_020821.3

p.I1132V

c.3394A>G

6 papers

NM_020821.3

p.W395C

c.1185G>T

6 papers

NM_020821.3

p.A444P

c.1330G>C

6 papers

NM_020821.3

p.G1389R

c.4165G>C

5 papers

NM_020821.3

p.R974K

c.2921G>A

5 papers

NM_020821.3

p.I2789T

c.8366T>C

5 papers

NM_020821.3

p.S2913N

c.8738G>A

4 papers

NM_020821.3

p.R269fs

c.805_806fs