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.P2984L

c.8951C>T

Surrounding Variants

1 paper

NM_015378.4

p.P2984S

c.8950C>T

2 papers

NM_015378.4

p.V2987delFs

c.8960_8961delTG

6 papers

NM_015378.4

p.V2987fs

c.8959_8960fs

1 paper

NM_015378.4

p.V2987G

c.8960T>G

1 paper

NM_015378.4

p.E2947Q

c.8839G>C

5 papers

NM_015378.4

p.T2945A

c.8833A>G

1 paper

NM_015378.4

p.L2944F

c.8830C>T

2 papers

NM_015378.4

p.D2932N

c.8794G>A

2 papers

NM_015378.4

p.S3025C

c.9074C>G

1 paper

NM_015378.4

p.L3027I

c.9079C>A

1 paper

NM_015378.4

p.R3031W

c.9091C>T

1 paper

NM_015378.4

p.R3031Q

c.9092G>A