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.L688L

c.2064G>A

Surrounding Variants

1 paper

NM_152564.5

p.S690F

c.2069C>T

8 papers

NM_152564.5

p.R692*

c.2074C>T

2 papers

NM_152564.5

p.R692Q

c.2075G>A

2 papers

NM_152564.5

p.Q683*

c.2047C>T

1 paper

NM_152564.5

p.Q683fs

c.2047_2048fs

1 paper

NM_152564.5

p.L694S

c.2081T>C

3 papers

NM_152564.5

p.Q683delFs

c.2047delC

2 papers

NM_152564.5

p.K697_N699del3

c.2089_2096del9

1 paper

NM_152564.5

p.K671_N672Splc

c.2014-2A>G

1 paper

NM_152564.5

p.Y707C

c.2120A>G

1 paper

NM_152564.5

p.H713Y

c.2137C>T

1 paper

NM_152564.5

p.L726L

c.2178T>C