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.Q223_E224Splc

c.670-19G>T

Surrounding Variants

1 paper

NM_015378.4

p.A225T

c.673G>A

4 papers

NM_015378.4

p.R260W

c.778C>T

1 paper

NM_015378.4

p.P263T

c.787C>A

1 paper

NM_015378.4

p.C267S

c.799T>A

1 paper

NM_015378.4

p.C267S

c.800G>C

1 paper

NM_015378.4

p.L271P

c.812T>C

1 paper

NM_015378.4

p.L278R

c.833T>G

1 paper

NM_015378.4

p.F289I

c.865T>A

1 paper

NM_015378.4

p.L290insFs

c.870dupC

1 paper

NM_015378.4

p.L293R

c.878T>G

2 papers

NM_015378.4

p.R295*

c.883C>T

2 papers

NM_015378.4

p.R303Q

c.908G>A