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.F2997L

c.8991T>A

Surrounding Variants

1 paper

NM_152564.5

p.F2997L

c.8991T>G

1 paper

NM_152564.5

p.F2997L

c.8989T>C

1 paper

NM_152564.5

p.Q2998_E2999Splc

c.8994+6A>G

1 paper

NM_152564.5

p.L2976V

c.8926C>G

1 paper

NM_152564.5

p.W2972*

c.8916G>A

1 paper

NM_152564.5

p.W2972*

c.8915G>A

6 papers

NM_017890.5

p.N2993S

c.8978A>G

NM_152564.5

p.N2968S

c.8903A>G

1 paper

NM_152564.5

p.K2950T

c.8849A>C

1 paper

NM_152564.5

p.K2950Q

c.8848A>C

1 paper

NM_152564.5

p.I2948M

c.8844C>G

1 paper

NM_152564.5

p.K2945E

c.8833A>G

1 paper

NM_152564.5

p.K2945ins1

c.8833_8834insGAA