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.A2833P

c.8497G>C

Surrounding Variants

1 paper

NM_015378.4

p.I2809insFs

c.8426_8427ins7

1 paper

NM_015378.4

p.I2809fs

c.8425_8426fs

1 paper

NM_015378.4

p.T2805A

c.8413A>G

3 papers

NM_015378.4

p.L2854R

c.8561T>G

1 paper

NM_015378.4

p.P2788R

c.8363C>G

1 paper

NM_015378.4

p.R2784H

c.8351G>A

1 paper

NM_015378.4

p.R2784C

c.8350C>T

1 paper

NM_015378.4

p.S2861N

c.8582G>A

1 paper

NM_015378.4

p.P2772L

c.8315C>T

1 paper

NM_015378.4

p.E2769Q

c.8305G>C

1 paper

NM_015378.4

p.F2750C

c.8249T>G

1 paper

NM_015378.4

p.R2739H

c.8216G>A