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

7 papers

NM_015378.4

p.S405R

c.1213A>C

Surrounding Variants

7 papers

NM_015378.4

p.S405R

c.1215T>A

7 papers

NM_015378.4

p.S405R

c.1215T>G

1 paper

NM_015378.4

p.P421T

c.1261C>A

1 paper

NM_015378.4

p.P421delFs

c.1263delA

1 paper

NM_015378.4

p.W436*

c.1307G>A

1 paper

NM_015378.4

p.W436*

c.1308G>A

1 paper

NM_015378.4

p.Q447*

c.1339C>T

1 paper

NM_015378.4

p.E450K

c.1348G>A

2 papers

NM_015378.4

p.E460Fs

c.1380delinsCAATGFs

1 paper

NM_015378.4

p.Q399R

c.1196A>G

1 paper

NM_015378.4

p.D394H

c.1180G>C

1 paper

NM_015378.4

p.I387M

c.1161T>G