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.I167F

c.499A>T

Surrounding Variants

1 paper

NM_152564.5

p.D166G

c.497A>G

2 papers

NM_152564.5

p.V168I

c.502G>A

1 paper

NM_152564.5

p.D166_I167delFs

c.498_499delTA

1 paper

NM_152564.5

p.D165N

c.493G>A

1 paper

NM_152564.5

p.S170S

c.510C>G

1 paper

NM_152564.5

p.Y162C

c.485A>G

1 paper

NM_152564.5

p.K161N

c.483A>C

1 paper

NM_152564.5

p.K161N

c.483A>T

1 paper

NM_152564.5

p.K161*

c.481A>T

1 paper

NM_152564.5

p.L160R

c.479T>G

1 paper

NM_152564.5

p.T174P

c.520A>C

1 paper

NM_152564.5

p.L160fs

c.478_479fs