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.E1342D

c.4026A>C

Surrounding Variants

1 paper

NM_033305.3

p.E1342D

c.4026A>T

1 paper

NM_033305.3

p.S1346G

c.4036A>G

3 papers

NM_033305.3

p.A1347A

c.4041C>T

2 papers

NM_033305.3

p.H1336L

c.4007A>T

4 papers

NM_033305.3

p.F1332Fs

c.3995_3996delinsAFs

1 paper

NM_033305.3

p.F1332delFs

c.3995_3996delTT

1 paper

NM_033305.3

p.Q1355*

c.4063C>T

1 paper

NM_033305.3

p.S1357I

c.4070G>T

1 paper

NM_033305.3

p.A1358T

c.4072G>A

1 paper

NM_033305.3

p.S1324fs

c.3970_3971fs

5 papers

NM_033305.3

p.S1324_Q1325delFs

c.3970_3973del4

1 paper

NM_033305.3

p.E1302fs

c.3904_3905fs