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.M1053I

c.3159G>A

Surrounding Variants

1 paper

NM_152564.5

p.M1053I

c.3159G>C

1 paper

NM_152564.5

p.M1053I

c.3159G>T

1 paper

NM_152564.5

p.E1055*

c.3163G>T

3 papers

NM_152564.5

p.I1042M

c.3126A>G

7 papers

NM_152564.5

p.T1068I

c.3203C>T

1 paper

NM_152564.5

p.P1031delFs

c.3092delC