Varaico: Literature-Extracted Genetic Variants

GOSR1

212 papers

RefSeq Summary

This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential compone...

Pfam Domains

GOSR1_Naa 7–150UCSCGOSR1 N-terminal domain

V-SNARE_Caa 161–226UCSCSnare region anchored in the vesicle membrane C-terminus

Gene Aliases

HGNC Name

golgi SNAP receptor complex member 1

HGNC Alias Symbols

GOS28; P28; GS28; GOS-28; GOLIM2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001007025.2

p.F210C

c.629T>G

Surrounding Variants

1 paper

NM_001007025.2

p.R209C

c.625C>T

1 paper

NM_001007025.2

p.I217_I220delFs

c.650_659del10

1 paper

NM_001007025.2

p.N221delFs

c.663delC

1 paper

NM_001007025.2

p.N221_L222insFs

c.663_664insTT

1 paper

NM_001007025.2

p.L222_L231del10

c.664_692del30

1 paper

NM_001007025.2

p.R223S

c.669G>C

1 paper

NM_001007025.2

p.R225W

c.673C>T

1 paper

NM_001007025.2

p.R226W

c.676C>T

1 paper

NM_001007025.2

p.I230_V234delins

c.690_702delinsCACCTGAACCCCC

1 paper

NM_001007025.2

p.G232W

c.694G>T

1 paper

NM_001007025.2

p.G232E

c.695G>A

1 paper

NM_001007025.2

p.G232G

c.696G>A