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

4 papers

NM_033305.3

p.Y1442*

c.4326T>G

Surrounding Variants

5 papers

NM_033305.3

p.Y1442*

c.4326T>A

1 paper

NM_033305.3

p.M1441insFs

c.4322_4323insA

1 paper

NM_033305.3

p.M1441insFs

c.4321_4322insA

2 papers

NM_033305.3

p.S1449delFs

c.4346delC

1 paper

NM_033305.3

p.S1449fs

c.4345_4346fs

1 paper

NM_033305.3

p.F1451delFs

c.4351delT

1 paper

NM_033305.3

p.F1451fs

c.4351_4352fs

3 papers

NM_033305.3

p.S1452P

c.4354T>C

2 papers

NM_033305.3

p.S1452*

c.4355C>A

2 papers

NM_033305.3

p.S1452*

c.4355C>G

2 papers

NM_033305.3

p.A1428P

c.4282G>C

1 paper

NM_033305.3

p.A1428_F1430Fs

c.4282_4289delinsAFs