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

8 papers

NM_033305.3

p.R3037*

c.9109C>T

Surrounding Variants

1 paper

NM_033305.3

p.R3040Q

c.9119G>A

1 paper

NM_033305.3

p.E3029G

c.9086A>G

3 papers

NM_033305.3

p.R3026Splc

c.9078-2A>G

1 paper

NM_033305.3

p.Q3060K

c.9178C>A

1 paper

NM_033305.3

p.R3026Splc

c.9078-133A>G