Varaico: Literature-Extracted Genetic Variants

VPS13A

333 papers

RefSeq Summary

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosoma...

Pfam Domains

VPS13_Naa 2–849UCSCVPS13-like family N-terminal region

VPS13_Naa 820–1054UCSCVPS13-like family N-terminal region

VPS13_Maa 1064–1861UCSCVPS13-like family middle region

VPS13_VABaa 1921–2456UCSCVacuolar-sorting associated protein 13, adaptor binding domain

VPS13_Caa 3036–3154UCSCIntermembrane lipid transfer protein VPS13, C-terminal

Gene Aliases

HGNC Name

vacuolar protein sorting 13 homolog A

HGNC Alias Symbols

KIAA0986; BLTP5A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033305.3

p.V2932L

c.8794G>C

Surrounding Variants

1 paper

NM_033305.3

p.V2932L

c.8794G>T

1 paper

NM_033305.3

p.Y2941*

c.8823C>A

2 papers

NM_033305.3

p.Y2941*

c.8823C>G

1 paper

NM_033305.3

p.R2945G

c.8833A>G

1 paper

NM_033305.3

p.G2919S

c.8755G>A

1 paper

NM_033305.3

p.N2950_A2954delFs

c.8848_8860del13

1 paper

NM_033305.3

p.G2959V

c.8876G>T

1 paper

NM_033305.3

p.R2962H

c.8885G>A

1 paper

NM_033305.3

p.G2966S

c.8896G>A

2 papers

NM_033305.3

p.S2969_G2970Splc

c.8907+2T>A

1 paper

NM_033305.3

p.G2915C

c.8743G>T

1 paper

NM_033305.3

p.G2911S

c.8731G>A