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.V3494A

c.10481T>C

Surrounding Variants

1 paper

NM_015378.4

p.L3492fs

c.10474_10475fs

1 paper

NM_015378.4

p.L3492delFs

c.10474delC

2 papers

NM_015378.4

p.R3499*

c.10495C>T

1 paper

NM_015378.4

p.I3505V

c.10513A>G

1 paper

NM_015378.4

p.D3511H

c.10531G>C

1 paper

NM_015378.4

p.I3519T

c.10556T>C

1 paper

NM_015378.4

p.D3520Y

c.10558G>T

15 papers

NM_015378.4

p.N3521S

c.10562A>G

1 paper

NM_015378.4

p.R3538G

c.10612A>G

1 paper

NM_015378.4

p.M3546V

c.10636A>G

1 paper

NM_015378.4

p.D3554D

c.10662C>T

1 paper

NM_015378.4

p.P3556_P3559del4

c.10666_10676del12