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.K2824Splc

c.8472-1G>A

Surrounding Variants

3 papers

NM_033305.3

p.K2824Splc

c.8472-1G>C

1 paper

NM_033305.3

p.K2824K

c.8472G>A

1 paper

NM_033305.3

p.F2828fs

c.8482_8483fs

2 papers

NM_033305.3

p.F2834_T2837delFs

c.8501_8511del11

1 paper

NM_033305.3

p.Q2841R

c.8522A>G

1 paper

NM_033305.3

p.K2809*

c.8425A>T

1 paper

NM_001018037.2

p.P2761R

c.8282C>G

2 papers

NM_033305.3

p.Y2857Y

c.8571T>C

1 paper

NM_033305.3

p.G2797delFs

c.8390delG

2 papers

NM_033305.3

p.Y2885insFs

c.8653dupT

1 paper

NM_033305.3

p.Y2885delFs

c.8653delT

1 paper

NM_033305.3

p.Y2885fs

c.8653_8654fs