Varaico: Literature-Extracted Genetic Variants

VPS13B

512 papers

RefSeq Summary

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the fun...

Pfam Domains

VPS13_Naa 1–1549UCSCVPS13-like family N-terminal region

VPS13_Maa 1557–2572UCSCVPS13-like family middle region

VPS13_VABaa 2628–2727UCSCVacuolar-sorting associated protein 13, adaptor binding domain

Gene Aliases

HGNC Name

vacuolar protein sorting 13 homolog B

HGNC Previous Symbols

CHS1; COH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_152564.5

p.Y413*

c.1239C>A

Surrounding Variants

14 papers

NM_152564.5

p.Y413*

c.1239C>G

4 papers

NM_152564.5

p.Q416H

c.1248G>C

4 papers

NM_152564.5

p.Q416H

c.1248G>T

4 papers

NM_152564.5

p.E409*

c.1225G>T

1 paper

NM_152564.5

p.V408fs

c.1222_1223fs

8 papers

NM_152564.5

p.Q407*

c.1219C>T

3 papers

NM_152564.5

p.Q407delFs

c.1220delA

1 paper

NM_152564.5

p.V423_C425delFs

c.1269_1273del5

1 paper

NM_152564.5

p.L403fs

c.1207_1208fs

1 paper

NM_152564.5

p.K402_L403Splc

c.1207-1G>A

2 papers

NM_152564.5

p.G430A

c.1289G>C

1 paper

NM_152564.5

p.T431T

c.1293T>G