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.E1083*

c.3247G>T

Surrounding Variants

1 paper

NM_015378.4

p.C1091Y

c.3272G>A

2 papers

NM_015378.4

p.S1093L

c.3278C>T

2 papers

NM_015378.4

p.L1096delFs

c.3288delA

1 paper

NM_015378.4

p.V1066D

c.3197T>A

7 papers

NM_015378.4

p.Q1106*

c.3316C>T

1 paper

NM_015378.4

p.N1059K

c.3177C>A

1 paper

NM_015378.4

p.A1056S

c.3166G>T

2 papers

NM_015378.4

p.D1054A

c.3161A>C

1 paper

NM_015378.4

p.L1114_N1115del2

c.3340_3344del6

7 papers

NM_015378.4

p.T1118M

c.3353C>T

2 papers

NM_015378.4

p.P1047L

c.3140C>T

1 paper

NM_015378.4

p.S1042F

c.3125C>T