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

1–12 of 981 variants

23 papers

NM_152564.5

p.L1116_C1117delFs

c.3348_3349delCT

14 papers

NM_152564.5

p.Y413*

c.1239C>A

14 papers

NM_152564.5

p.Y413*

c.1239C>G

11 papers

NM_152564.5

p.R1143*

c.3427C>T

9 papers

NM_152564.5

p.R146*

c.436C>T

8 papers

NM_152564.5

p.Q407*

c.1219C>T

8 papers

NM_152564.5

p.R692*

c.2074C>T

7 papers

NM_152564.5

p.T1068I

c.3203C>T

7 papers

NM_017890.5

p.E2314Splc

c.6940+1G>T

7 papers

NM_152564.5

p.I3086_I3087insFs

c.9258_9259insT

6 papers

NM_152564.5

p.R502*

c.1504C>T

6 papers

NM_152564.5

p.A590T

c.1768G>A