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

2 papers

NM_020821.3

p.I1523V

c.4567A>G

Surrounding Variants

1 paper

NM_020821.3

p.T1522S

c.4565C>G

1 paper

NM_020821.3

p.T1522S

c.4564A>T

1 paper

NM_020821.3

p.Q1529Q

c.4587G>A

1 paper

NM_020821.3

p.D1514H

c.4540G>C

1 paper

NM_020821.3

p.E1503K

c.4507G>A

1 paper

NM_020821.3

p.N1499D

c.4495A>G

3 papers

NM_020821.3

p.I1495V

c.4483A>G

1 paper

NM_020821.3

p.A1546T

c.4636G>A

1 paper

NM_020821.3

p.A1557P

c.4669G>C

1 paper

NM_020821.3

p.I1582I

c.4746C>T

1 paper

NM_020821.3

p.T1485A

c.4453A>G

1 paper

NM_020821.3

p.I1477fs

c.4429_4430fs