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.N507S

c.1520A>G

Surrounding Variants

1 paper

NM_152564.5

p.E505fs

c.1513_1514fs

1 paper

NM_152564.5

p.P504delFs

c.1512delA

1 paper

NM_152564.5

p.R510H

c.1529G>A

1 paper

NM_152564.5

p.P504A

c.1510C>G

1 paper

NM_152564.5

p.R510R

c.1530C>T

1 paper

NM_152564.5

p.R502Q

c.1505G>A

1 paper

NM_152564.5

p.R502delFs

c.1506delA

6 papers

NM_152564.5

p.R502*

c.1504C>T

1 paper

NM_152564.5

p.L498_F499del2

c.1492_1496del6

1 paper

NM_152564.5

p.S517*

c.1550C>G

2 papers

NM_152564.5

p.H520R

c.1559A>G

2 papers

NM_152564.5

p.K521fs

c.1561_1562fs