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.Q2651_I2652Splc

c.7954-166G>A

Surrounding Variants

1 paper

NM_033305.3

p.G2658S

c.7972G>A

1 paper

NM_033305.3

p.P2662_F2663delFs

c.7985_7989del5

1 paper

NM_033305.3

p.K2669delFs

c.8007delA

3 papers

NM_033305.3

p.K2672N

c.8016G>C

2 papers

NM_033305.3

p.K2672N

c.8016G>T

3 papers

NM_033305.3

p.S2673L

c.8018C>T

5 papers

NM_033305.3

p.A2679T

c.8035G>A

1 paper

NM_033305.3

p.Q2651H

c.7953G>C

1 paper

NM_033305.3

p.Q2651H

c.7953G>T

1 paper

NM_033305.3

p.Q2646H

c.7938G>C

1 paper

NM_033305.3

p.Q2646H

c.7938G>T

1 paper

NM_033305.3

p.S2641A

c.7921T>G