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.R4132R

c.12396G>T

Surrounding Variants

1 paper

NM_015378.4

p.R4132Q

c.12395G>A

1 paper

NM_015378.4

p.E4131Q

c.12391G>C

7 papers

NM_015378.4

p.A4139V

c.12416C>T

1 paper

NM_015378.4

p.G4121G

c.12363G>A

1 paper

NM_015378.4

p.G4121E

c.12362G>A

1 paper

NM_015378.4

p.D4118N

c.12352G>A

4 papers

NM_015378.4

p.S4117*

c.12350C>A

5 papers

NM_015378.4

p.S4117*

c.12350C>G

6 papers

NM_015378.4

p.G4149S

c.12445G>A

1 paper

NM_015378.4

p.G4152D

c.12455G>A

1 paper

NM_015378.4

p.G4159D

c.12476G>A

4 papers

NM_015378.4

p.T4162N

c.12485C>A