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

7 papers

NM_020821.3

p.W395C

c.1185G>C

Surrounding Variants

6 papers

NM_020821.3

p.W395C

c.1185G>T

1 paper

NM_020821.3

p.W393delFs

c.1179delC

1 paper

NM_020821.3

p.W393fs

c.1177_1178fs

1 paper

NM_020821.3

p.I398M

c.1194A>G

3 papers

NM_020821.3

p.I398I

c.1194A>C

1 paper

NM_020821.3

p.Q403H

c.1209G>T

1 paper

NM_020821.3

p.Q403H

c.1209G>C

1 paper

NM_020821.3

p.K406M

c.1217A>T

3 papers

NM_020821.3

p.K409R

c.1226A>G

1 paper

NM_020821.3

p.Y376H

c.1126T>C

1 paper

NM_020821.3

p.S419S

c.1257T>C

2 papers

NM_020821.3

p.Q430_D431Splc

c.1290+1G>A