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.R685H

c.2054G>A

Surrounding Variants

1 paper

NM_033305.3

p.E687insFs

c.2061dupA

1 paper

NM_033305.3

p.K683E

c.2047A>G

1 paper

NM_033305.3

p.L688fs

c.2062_2063fs

1 paper

NM_033305.3

p.N697D

c.2089A>G

1 paper

NM_033305.3

p.D703ins1

c.2107_2108insAGG

3 papers

NM_033305.3

p.S708L

c.2123C>T

3 papers

NM_033305.3

p.Q712*

c.2134C>T

2 papers

NM_033305.3

p.G724Splc

c.2170+1G>A

2 papers

NM_033305.3

p.G724Splc

c.2170+5G>A

4 papers

NM_033305.3

p.R731*

c.2191C>T

1 paper

NM_033305.3

p.L733P

c.2198T>C

2 papers

NM_033305.3

p.S734N

c.2201G>A