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

11 papers

NM_015378.4

p.R4228Q

c.12683G>A

Surrounding Variants

1 paper

NM_015378.4

p.Q4237delFs

c.12709delC

1 paper

NM_015378.4

p.Q4237fs

c.12709_12710fs

1 paper

NM_015378.4

p.E4245D

c.12735G>C

1 paper

NM_015378.4

p.E4245D

c.12735G>T

1 paper

NM_015378.4

p.S4246G

c.12736A>G

1 paper

NM_015378.4

p.A4248E

c.12743C>A

1 paper

NM_015378.4

p.A4248V

c.12743C>T

2 papers

NM_015378.4

p.F4265fs

c.12793_12794fs

1 paper

NM_015378.4

p.F4265Splc

c.12795-99C>T

1 paper

NM_015378.4

p.F4265Splc

c.12795-1G>A

2 papers

NM_015378.4

p.F4266fs

c.12796_12797fs

1 paper

NM_015378.4

p.E4301K

c.12901G>A