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.V3036A

c.9107T>C

Surrounding Variants

1 paper

NM_015378.4

p.R3031Q

c.9092G>A

1 paper

NM_015378.4

p.R3031W

c.9091C>T

1 paper

NM_015378.4

p.L3027I

c.9079C>A

2 papers

NM_015378.4

p.S3025C

c.9074C>G

1 paper

NM_015378.4

p.D3085A

c.9254A>C

1 paper

NM_015378.4

p.W3116*

c.9347G>A

1 paper

NM_015378.4

p.S3127G

c.9379A>G

3 papers

NM_015378.4

p.R3130*

c.9388C>T

1 paper

NM_015378.4

p.S3134C

c.9401C>G

6 papers

NM_015378.4

p.R3141*

c.9421C>T

1 paper

NM_015378.4

p.R3141Q

c.9422G>A

1 paper

NM_015378.4

p.V2987G

c.8960T>G