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.L75_L76del2

c.223_227del6

Surrounding Variants

1 paper

NM_001007025.2

p.Q74fs

c.220_221fs

1 paper

NM_001007025.2

p.Q74*

c.220C>T

1 paper

NM_001007025.2

p.I72insFs

c.215dupT

1 paper

NM_001007025.2

p.R78K

c.233G>A

1 paper

NM_001007025.2

p.E71Q

c.211G>C

1 paper

NM_001007025.2

p.E71*

c.211G>T

1 paper

NM_001007025.2

p.R78_L79Splc

c.234+1G>A

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.R63I

c.188G>T

1 paper

NM_001007025.2

p.D62N

c.184G>A

2 papers

NM_001007025.2

p.Q61H

c.183A>C