Varaico: Literature-Extracted Genetic Variants

VPS13D

303 papers

RefSeq Summary

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-...

Pfam Domains

VPS13_Naa 1–1847UCSCVPS13-like family N-terminal region

VPS13_Maa 1885–2062UCSCVPS13-like family middle region

VPS13_Maa 2302–2872UCSCVPS13-like family middle region

UBA_7aa 2639–2679UCSCUBA-like domain

VPS13_VABaa 2958–3559UCSCVacuolar-sorting associated protein 13, adaptor binding domain

Gene Aliases

HGNC Name

vacuolar protein sorting 13 homolog D

HGNC Alias Symbols

FLJ10619; KIAA0453; BLTP5D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015378.4

p.F2750C

c.8249T>G

Surrounding Variants

1 paper

NM_015378.4

p.R2739H

c.8216G>A

1 paper

NM_015378.4

p.R2739C

c.8215C>T

2 papers

NM_015378.4

p.Q2738P

c.8213A>C

1 paper

NM_015378.4

p.Q2738*

c.8212C>T

1 paper

NM_015378.4

p.R2733Splc

c.8197+1G>A

1 paper

NM_015378.4

p.R2733S

c.8197C>A

1 paper

NM_015378.4

p.S2732F

c.8195C>T

1 paper

NM_015378.4

p.V2704A

c.8111T>C

1 paper

NM_015378.4

p.P2693S

c.8077C>T

1 paper

NM_015378.4

p.E2678D

c.8034A>C

1 paper

NM_015378.4

p.E2678D

c.8034A>T

1 paper

NM_015378.4

p.E2769Q

c.8305G>C