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.K781fs

c.2341_2342fs

Surrounding Variants

11 papers

NM_033305.3

p.K781delFs

c.2343delA

1 paper

NM_033305.3

p.Q783P

c.2348A>C

1 paper

NM_033305.3

p.R776*

c.2326C>T

1 paper

NM_033305.3

p.F764fs

c.2290_2291fs

1 paper

NM_033305.3

p.P804delFs

c.2412delT

2 papers

NM_033305.3

p.Q809*

c.2425C>T

3 papers

NM_033305.3

p.K763Splc

c.2288+2T>C

1 paper

NM_033305.3

p.P743H

c.2228C>A

2 papers

NM_033305.3

p.S734N

c.2201G>A

1 paper

NM_033305.3

p.L733P

c.2198T>C

4 papers

NM_033305.3

p.R731*

c.2191C>T

2 papers

NM_033305.3

p.G724Splc

c.2170+5G>A