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.G58del1

c.172_173delGGA

Surrounding Variants

1 paper

NM_001007025.2

p.S60T

c.179G>C

1 paper

NM_001007025.2

p.S60delFs

c.180delC

1 paper

NM_001007025.2

p.Q61R

c.182A>G

1 paper

NM_001007025.2

p.Q61L

c.182A>T

2 papers

NM_001007025.2

p.Q61H

c.183A>C

2 papers

NM_001007025.2

p.Q61H

c.183A>T

1 paper

NM_001007025.2

p.D62N

c.184G>A

1 paper

NM_001007025.2

p.T52K

c.155C>A

1 paper

NM_001007025.2

p.R63I

c.188G>T

1 paper

NM_001007025.2

p.M64L

c.190A>C

1 paper

NM_001007025.2

p.M64L

c.190A>T

1 paper

NM_001007025.2

p.D51_P54del4

c.151_161del12