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

2 papers

NM_015378.4

p.G1458R

c.4372G>C

Surrounding Variants

2 papers

NM_015378.4

p.G1458R

c.4372G>A

1 paper

NM_015378.4

p.A1462T

c.4384G>A

1 paper

NM_015378.4

p.R1481K

c.4442G>A

1 paper

NM_015378.4

p.L1434V

c.4300T>G

1 paper

NM_015378.4

p.Q1423H

c.4269G>C

1 paper

NM_015378.4

p.Q1423H

c.4269G>T

1 paper

NM_015378.4

p.R1421P

c.4262G>C

2 papers

NM_015378.4

p.D1415N

c.4243G>A

1 paper

NM_015378.4

p.A1412V

c.4235C>T

1 paper

NM_015378.4

p.F1410C

c.4229T>G

1 paper

NM_015378.4

p.P1392P

c.4176G>A

2 papers

NM_015378.4

p.P1392L

c.4175C>T