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

2 papers

NM_033305.3

p.P2020fs

c.6058_6059fs

Surrounding Variants

4 papers

NM_033305.3

p.P2020fs

c.6058_6059fs

14 papers

NM_033305.3

p.P2020delFs

c.6059delC

1 paper

NM_033305.3

p.N2025S

c.6074A>G

1 paper

NM_033305.3

p.G2029_Y2031del3

c.6085_6092del9

2 papers

NM_033305.3

p.Y2009Y

c.6027C>T

3 papers

NM_033305.3

p.R2032*

c.6094C>T

1 paper

NM_033305.3

p.R2032Splc

c.6095+1G>A

1 paper

NM_033305.3

p.L2006L

c.6018G>T

1 paper

NM_033305.3

p.S2003L

c.6008C>T

1 paper

NM_033305.3

p.H2001del1

c.6001_6002delCAT

1 paper

NM_033305.3

p.R2032Splc

c.6096-7C>T

3 papers

NM_033305.3

p.S2033_D2041delFs

c.6098_6123del26