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.R2656C

c.7966C>T

Surrounding Variants

1 paper

NM_015378.4

p.R2644insFs

c.7931_7932ins5

2 papers

NM_015378.4

p.Q2641R

c.7922A>G

1 paper

NM_015378.4

p.E2628Q

c.7882G>C

1 paper

NM_015378.4

p.N2598S

c.7793A>G

1 paper

NM_015378.4

p.A2597D

c.7790C>A

6 papers

NM_015378.4

p.L2587P

c.7760T>C

1 paper

NM_015378.4

p.S2579_Y2580delFs

c.7736_7739del4

5 papers

NM_015378.4

p.Q2572*

c.7714C>T

1 paper

NM_015378.4

p.Q2570H

c.7710G>C

1 paper

NM_015378.4

p.Q2570H

c.7710G>T

1 paper

NM_015378.4

p.S2552L

c.7655C>T

1 paper

NM_015378.4

p.Q2539*

c.7615C>T