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

1–12 of 509 variants

15 papers

NM_015378.4

p.N3521S

c.10562A>G

11 papers

NM_015378.4

p.L2900S

c.8699T>C

11 papers

NM_015378.4

p.A4210V

c.12629C>T

11 papers

NM_015378.4

p.R4228Q

c.12683G>A

8 papers

NM_015378.4

p.G1200D

c.3599G>A

8 papers

NM_015378.4

p.Y1803*

c.5409C>A

8 papers

NM_015378.4

p.Y1803*

c.5409C>G

8 papers

NM_015378.4

p.N4107I

c.12320A>T

7 papers

NM_015378.4

p.N314Splc

c.941+3A>G

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