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.L1706I

c.5116C>A

Surrounding Variants

1 paper

NM_015378.4

p.S1707F

c.5120C>T

2 papers

NM_015378.4

p.N1715S

c.5144A>G

1 paper

NM_015378.4

p.R1692Q

c.5075G>A

1 paper

NM_015378.4

p.M1689I

c.5067G>A

1 paper

NM_015378.4

p.L1677L

c.5029T>C

1 paper

NM_015378.4

p.R1741T

c.5222G>C

1 paper

NM_015378.4

p.R1747W

c.5239C>T

1 paper

NM_015378.4

p.D1757V

c.5270A>T

5 papers

NM_015378.4

p.T1767I

c.5300C>T

1 paper

NM_015378.4

p.L1642P

c.4925T>C

1 paper

NM_015378.4

p.T1636A

c.4906A>G

1 paper

NM_015378.4

p.S1778R

c.5332A>C