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

1–12 of 598 variants

14 papers

NM_033305.3

p.P2020delFs

c.6059delC

11 papers

NM_033305.3

p.K781delFs

c.2343delA

11 papers

NM_033305.3

p.R1471*

c.4411C>T

11 papers

NM_033305.3

p.R2623*

c.7867C>T

10 papers

NM_033305.3

p.R1297*

c.3889C>T

8 papers

NM_033305.3

p.I2771R

c.8312T>G

8 papers

NM_033305.3

p.R3037*

c.9109C>T

7 papers

NM_033305.3

p.R267*

c.799C>T

6 papers

NM_033305.3

p.V10A

c.29T>C

6 papers

NM_033305.3

p.A287S

c.859G>T

6 papers

NM_033305.3

p.P2602P

c.7806G>A

6 papers

NM_033305.3

p.S2761*

c.8282C>G