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.K434N

c.1302G>T

Surrounding Variants

1 paper

NM_020821.3

p.K434N

c.1302G>C

1 paper

NM_020821.3

p.K434K

c.1302G>A

2 papers

NM_020821.3

p.Q430_D431Splc

c.1291-4A>G

1 paper

NM_020821.3

p.I441L

c.1321A>C

6 papers

NM_020821.3

p.A444P

c.1330G>C

1 paper

NM_020821.3

p.Q449Q

c.1347A>G

1 paper

NM_020821.3

p.V450fs

c.1348_1349fs

1 paper

NM_020821.3

p.V450V

c.1350T>G

1 paper

NM_020821.3

p.E451_V452Splc

c.1353+1G>A

2 papers

NM_020821.3

p.Q430_D431Splc

c.1290+1G>A

1 paper

NM_020821.3

p.S419S

c.1257T>C

3 papers

NM_020821.3

p.K409R

c.1226A>G