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.E1302fs

c.3904_3905fs

Surrounding Variants

1 paper

NM_033305.3

p.W1301*

c.3903G>A

1 paper

NM_033305.3

p.W1301*

c.3902G>A

1 paper

NM_033305.3

p.E1302delFs

c.3904delG

10 papers

NM_033305.3

p.R1297*

c.3889C>T

1 paper

NM_033305.3

p.L1286P

c.3857T>C

1 paper

NM_033305.3

p.L1283delFs

c.3847delC

3 papers

NM_033305.3

p.R1273*

c.3817C>T

1 paper

NM_033305.3

p.R1271Splc

c.3813-41G>A

5 papers

NM_033305.3

p.S1324_Q1325delFs

c.3970_3973del4

1 paper

NM_033305.3

p.S1324fs

c.3970_3971fs

1 paper

NM_033305.3

p.F1332delFs

c.3995_3996delTT

4 papers

NM_033305.3

p.F1332Fs

c.3995_3996delinsAFs