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.G2060D

c.6179G>A

Surrounding Variants

1 paper

NM_033305.3

p.P2072S

c.6214C>T

1 paper

NM_033305.3

p.M2046I

c.6138G>A

1 paper

NM_033305.3

p.M2046I

c.6138G>C

1 paper

NM_033305.3

p.M2046I

c.6138G>T

1 paper

NM_033305.3

p.N2043insFs

c.6127_6128ins16

1 paper

NM_033305.3

p.I2081V

c.6241A>G

1 paper

NM_033305.3

p.L2037delFs

c.6109delC

2 papers

NM_033305.3

p.S2033*

c.6098C>A

2 papers

NM_033305.3

p.S2033*

c.6098C>G

3 papers

NM_033305.3

p.S2033_D2041delFs

c.6098_6123del26

1 paper

NM_033305.3

p.R2032Splc

c.6096-7C>T

2 papers

NM_033305.3

p.S2095delFs

c.6283delT