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.K1432fs

c.4294_4295fs

Surrounding Variants

1 paper

NM_020821.3

p.K1432delFs

c.4294delT

1 paper

NM_020821.3

p.I1397insFs

c.4189_4190insA

6 papers

NM_020821.3

p.G1389R

c.4165G>C

1 paper

NM_020821.3

p.G1389Splc

c.4166-8C>A

2 papers

NM_020821.3

p.V1434I

c.4300G>A

1 paper

NM_020821.3

p.T1437P

c.4309A>C

1 paper

NM_020821.3

p.K1441Q

c.4321A>C

1 paper

NM_020821.3

p.K1444E

c.4330A>G

2 papers

NM_020821.3

p.K1445_G1446delFs

c.4333_4336del4

1 paper

NM_020821.3

p.V1454V

c.4362C>T

1 paper

NM_020821.3

p.M1459V

c.4375A>G

1 paper

NM_020821.3

p.E1460K

c.4378G>A