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.M2764I

c.8292G>A

Surrounding Variants

1 paper

NM_020821.3

p.M2764I

c.8292G>T

1 paper

NM_020821.3

p.M2764I

c.8292G>C

1 paper

NM_020821.3

p.V2765L

c.8293G>T

1 paper

NM_020821.3

p.V2765L

c.8293G>C

2 papers

NM_020821.3

p.V2757I

c.8269G>A

1 paper

NM_020821.3

p.E2747A

c.8240A>C

3 papers

NM_020821.3

p.R2785C

c.8353C>T

1 paper

NM_020821.3

p.D2744Y

c.8230G>T

5 papers

NM_020821.3

p.I2789T

c.8366T>C

1 paper

NM_020821.3

p.R2730C

c.8188C>T

1 paper

NM_020821.3

p.R2728S

c.8182C>A

1 paper

NM_020821.3

p.F2803delFs

c.8407_8408delAA