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

6 papers

NM_033305.3

p.P2602P

c.7806G>A

Surrounding Variants

1 paper

NM_033305.3

p.P2602P

c.7806G>C

2 papers

NM_033305.3

p.R2579fs

c.7735_7736fs

3 papers

NM_033305.3

p.R2579_E2580delFs

c.7736_7739del4

1 paper

NM_033305.3

p.K2559fs

c.7675_7676fs

3 papers

NM_033305.3

p.K2559delFs

c.7675_7676delAA

1 paper

NM_033305.3

p.D2553H

c.7657G>C

1 paper

NM_033305.3

p.I2620K

c.7859T>A

11 papers

NM_033305.3

p.R2623*

c.7867C>T

1 paper

NM_033305.3

p.S2641A

c.7921T>G

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.Q2651H

c.7953G>C