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.L3062fs

c.9184_9185fs

Surrounding Variants

1 paper

NM_017890.5

p.L3087fs

c.9259_9260fs

1 paper

NM_017890.5

p.L3087insFs

c.9260dupT

2 papers

NM_152564.5

p.K3061_L3062Splc

c.9184-1G>T

1 paper

NM_152564.5

p.I3077insFs

c.9229_9230ins10

7 papers

NM_152564.5

p.I3086_I3087insFs

c.9258_9259insT

1 paper

NM_152564.5

p.I3087insFs

c.9260dupT

1 paper

NM_152564.5

p.N3088D

c.9262A>G

3 papers

NM_152564.5

p.N3088Y

c.9262A>T

NM_017890.5

p.N3113Y

c.9337A>T

2 papers

NM_152564.5

p.P3098insFs

c.9293dupC

1 paper

NM_152564.5

p.L3100_S3101delFs

c.9300_9303del4

3 papers

NM_017890.5

p.K3086_L3087insFs

c.9258_9259insT

NM_152564.5

p.K3061_L3062insFs

c.9183_9184insT

2 papers

NM_152564.5

p.A3008E

c.9023C>A

NM_017890.5

p.A3033E

c.9098C>A