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.I2774V

c.8320A>G

Surrounding Variants

2 papers

NM_033305.3

p.K2775K

c.8325G>A

8 papers

NM_033305.3

p.I2771R

c.8312T>G

1 paper

NM_033305.3

p.H2770Y

c.8308C>T

1 paper

NM_033305.3

p.K2775_L2776Splc

c.8325+21T>C

5 papers

NM_033305.3

p.S2761*

c.8282C>A

6 papers

NM_033305.3

p.S2761*

c.8282C>G

2 papers

NM_033305.3

p.Q2760*

c.8278C>T

1 paper

NM_033305.3

p.K2749T

c.8246A>C

1 paper

NM_033305.3

p.L2740I

c.8218C>A

3 papers

NM_033305.3

p.E2739*

c.8215G>T

3 papers

NM_033305.3

p.V2738fs

c.8212_8213fs

1 paper

NM_033305.3

p.G2797delFs

c.8390delG