Varaico: Literature-Extracted Genetic Variants

VPS13D

303 papers

RefSeq Summary

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-...

Pfam Domains

VPS13_Naa 1–1847UCSCVPS13-like family N-terminal region

VPS13_Maa 1885–2062UCSCVPS13-like family middle region

VPS13_Maa 2302–2872UCSCVPS13-like family middle region

UBA_7aa 2639–2679UCSCUBA-like domain

VPS13_VABaa 2958–3559UCSCVacuolar-sorting associated protein 13, adaptor binding domain

Gene Aliases

HGNC Name

vacuolar protein sorting 13 homolog D

HGNC Alias Symbols

FLJ10619; KIAA0453; BLTP5D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015378.4

p.G4186R

c.12556G>A

Surrounding Variants

1 paper

NM_015378.4

p.G4186R

c.12556G>C

6 papers

NM_015378.4

p.G4177D

c.12530G>A

1 paper

NM_015378.4

p.G4176delFs

c.12526delG

1 paper

NM_015378.4

p.A4200V

c.12599C>T

2 papers

NM_015378.4

p.I4165T

c.12494T>C

4 papers

NM_015378.4

p.T4162N

c.12485C>A

11 papers

NM_015378.4

p.A4210V

c.12629C>T

1 paper

NM_015378.4

p.A4210A

c.12630G>A

1 paper

NM_015378.4

p.G4159D

c.12476G>A

1 paper

NM_015378.4

p.R4221G

c.12661A>G

1 paper

NM_015378.4

p.R4221Splc

c.12662+1059C>G

1 paper

NM_015378.4

p.G4152D

c.12455G>A