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

6 papers

NM_033305.3

p.V10A

c.29T>C

Surrounding Variants

1 paper

NM_033305.3

p.D9_L11delFs

c.25_31del7

1 paper

NM_033305.3

p.N12K

c.36C>A

1 paper

NM_033305.3

p.N12K

c.36C>G

1 paper

NM_033305.3

p.S5insFs

c.14_15insT

2 papers

NM_033305.3

p.V6_V8delFs

c.16_22del7

1 paper

NM_033305.3

p.E4Fs

c.10delinsTATAGCTGTTATATAAAATTAFs

1 paper

NM_033305.3

p.E4Fs

c.10delinsTATAGCTGTTATATAAAATTATTTAAFs

1 paper

NM_033305.3

p.D17delFs

c.51delC

1 paper

NM_033305.3

p.Y18*

c.54T>A

1 paper

NM_033305.3

p.Y18*

c.54T>G

1 paper

NM_033305.3

p.S25_I31del7

c.73_92del21

1 paper

NM_033305.3

p.L27insFs

c.80dupT