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

1 paper

NM_152564.5

p.M597T

c.1790T>C

Surrounding Variants

1 paper

NM_152564.5

p.A590E

c.1769C>A

1 paper

NM_152564.5

p.A590V

c.1769C>T

6 papers

NM_152564.5

p.A590T

c.1768G>A

3 papers

NM_152564.5

p.R611K

c.1832G>A

1 paper

NM_152564.5

p.K613_S614del0

c.1837_1842del6

1 paper

NM_152564.5

p.P581S

c.1741C>T

3 papers

NM_152564.5

p.V578delFs

c.1733delT

2 papers

NM_152564.5

p.K575_S576insT

c.1723_1727ins3

2 papers

NM_152564.5

p.G567E

c.1700G>A

1 paper

NM_152564.5

p.G561W

c.1681G>T

1 paper

NM_152564.5

p.D557E

c.1671C>A

1 paper

NM_152564.5

p.D557E

c.1671C>G