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.D276H

c.826G>C

Surrounding Variants

1 paper

NM_020821.3

p.L275_D276Splc

c.826-1G>A

1 paper

NM_020821.3

p.T284I

c.851C>T

2 papers

NM_020821.3

p.I288M

c.864A>G

1 paper

NM_020821.3

p.N287_P289insFs

c.860_866dup7

1 paper

NM_020821.3

p.P290fs

c.868_869fs

1 paper

NM_020821.3

p.Y292insFs

c.875dupA

1 paper

NM_020821.3

p.S270L

c.809C>T

1 paper

NM_017684.5

p.R226fs

c.676_677fs

3 papers

NM_020821.3

p.R269insFs

c.806_807ins4

4 papers

NM_020821.3

p.R269fs

c.805_806fs

1 paper

NM_020821.3

p.M265_S266delFs

c.795_796delAC

1 paper

NM_020821.3

p.R251*

c.751C>T