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.Y1253*

c.3759C>G

Surrounding Variants

1 paper

NM_015378.4

p.Y1253*

c.3759C>A

1 paper

NM_015378.4

p.I1248T

c.3743T>C

1 paper

NM_015378.4

p.I1238M

c.3714T>G

1 paper

NM_015378.4

p.L1270F

c.3810G>C

1 paper

NM_015378.4

p.L1270F

c.3810G>T

1 paper

NM_015378.4

p.Q1227L

c.3680A>T

1 paper

NM_015378.4

p.C1282R

c.3844T>C

1 paper

NM_015378.4

p.S1296_A1297delFs

c.3887_3890del4

1 paper

NM_015378.4

p.K1298E

c.3892A>G

1 paper

NM_015378.4

p.N1204Y

c.3610A>T

6 papers

NM_015378.4

p.M1307L

c.3919A>C

6 papers

NM_015378.4

p.M1307L

c.3919A>T