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.F2268fs

c.6802_6803fs

Surrounding Variants

2 papers

NM_152564.5

p.F2268fs

c.6802_6803fs

NM_017890.5

p.F2293fs

c.6877_6878fs

2 papers

NM_152564.5

p.F2268delFs

c.6804delT

NM_017890.5

p.F2293delFs

c.6879delT

10 papers

NM_017890.5

p.E2314Splc

c.6940+1G>T

NM_152564.5

p.E2289Splc

c.6865+1G>T

1 paper

NM_017890.5

p.V2245fs

c.6733_6734fs

1 paper

NM_152564.5

p.L2293delFs

c.6879delG

1 paper

NM_152564.5

p.T2305I

c.6914C>T

4 papers

NM_152564.5

p.Y2316C

c.6947A>G

NM_017890.5

p.Y2341C

c.7022A>G

1 paper

NM_152564.5

p.V2321V

c.6963A>G

NM_017890.5

p.V2346V

c.7038A>G

1 paper

NM_152564.5

p.T2323P

c.6967A>C

1 paper

NM_152564.5

p.L2324_V2325ins8

c.6970_6974ins24

1 paper

NM_152564.5

p.R2326*

c.6976C>T

1 paper

NM_017890.5

p.S2366fs

c.7096_7097fs