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.D394H

c.1180G>C

Surrounding Variants

1 paper

NM_015378.4

p.Q399R

c.1196A>G

1 paper

NM_015378.4

p.I387M

c.1161T>G

1 paper

NM_015378.4

p.K386delFs

c.1156_1157delAA

1 paper

NM_015378.4

p.E378D

c.1134G>C

1 paper

NM_015378.4

p.E378D

c.1134G>T

1 paper

NM_015378.4

p.E377V

c.1130A>T

1 paper

NM_015378.4

p.M373L

c.1117A>T

2 papers

NM_015378.4

p.E372K

c.1114G>A

1 paper

NM_015378.4

p.E372delFs

c.1114_1115delGA

7 papers

NM_015378.4

p.S405R

c.1213A>C

7 papers

NM_015378.4

p.S405R

c.1215T>A

7 papers

NM_015378.4

p.S405R

c.1215T>G