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

2 papers

NM_015378.4

p.I863L

c.2587A>C

Surrounding Variants

7 papers

NM_015378.4

p.T865A

c.2593A>G

1 paper

NM_015378.4

p.N878I

c.2633A>T

2 papers

NM_015378.4

p.W835*

c.2505G>A

2 papers

NM_015378.4

p.W835*

c.2504G>A

1 paper

NM_015378.4

p.R830Q

c.2489G>A

1 paper

NM_015378.4

p.A899_T902del4

c.2695_2705del12

1 paper

NM_015378.4

p.T903N

c.2708C>A

1 paper

NM_015378.4

p.S818S

c.2454G>A

1 paper

NM_015378.4

p.S810N

c.2429G>A

1 paper

NM_015378.4

p.Q923K

c.2767C>A

1 paper

NM_015378.4

p.E801K

c.2401G>A

1 paper

NM_015378.4

p.F799F

c.2397C>T