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.L301R

c.902T>G

Surrounding Variants

1 paper

NM_033305.3

p.A309T

c.925G>A

1 paper

NM_033305.3

p.Q310insFs

c.929_930insA

3 papers

NM_033305.3

p.Q310*

c.928C>T

1 paper

NM_033305.3

p.P319L

c.956C>T

1 paper

NM_033305.3

p.V321insFs

c.962dupT

1 paper

NM_033305.3

p.V321V

c.963G>A

1 paper

NM_033305.3

p.P322fs

c.964_965fs

6 papers

NM_033305.3

p.A287S

c.859G>T

1 paper

NM_033305.3

p.I281_E282del2

c.841_845del6

1 paper

NM_033305.3

p.E280Q

c.838G>C

1 paper

NM_033305.3

p.S273F

c.818C>T

7 papers

NM_033305.3

p.R267*

c.799C>T