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

8 papers

NM_020821.3

p.R3652*

c.10954C>T

Surrounding Variants

3 papers

NM_020821.3

p.R3652Q

c.10955G>A

1 paper

NM_020821.3

p.I3656V

c.10966A>G

1 paper

NM_020821.3

p.F3676V

c.11026T>G

3 papers

NM_017684.5

p.P3637S

c.10909C>T

NM_020821.3

p.P3680S

c.11038C>T

3 papers

NM_020821.3

p.S3683G

c.11047A>G

1 paper

NM_020821.3

p.K3692_E3693Splc

c.11076+3A>G

2 papers

NM_020821.3

p.G3695D

c.11084G>A

1 paper

NM_020821.3

p.D3701fs

c.11101_11102fs

1 paper

NM_020821.3

p.Q3705R

c.11114A>G

2 papers

NM_020821.3

p.D3715Y

c.11143G>T

1 paper

NM_020821.3

p.N3724S

c.11171A>G

4 papers

NM_020821.3

p.I3726V

c.11176A>G