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

1–12 of 131 variants

3 papers

NM_001007025.2

p.M1insFs

c.2dupT

2 papers

NM_001007025.2

p.K14R

c.41A>G

2 papers

NM_001007025.2

p.R43Q

c.128G>A

2 papers

NM_001007025.2

p.Q61H

c.183A>C

2 papers

NM_001007025.2

p.Q61H

c.183A>T

2 papers

NM_001007025.2

p.D143N

c.427G>A

2 papers

NM_001007025.2

p.L160L

c.478C>T

2 papers

NM_001007025.2

p.S191P

c.571T>C

2 papers

NM_001007025.2

p.Q192*

c.574C>T

1 paper

NM_001007025.2

p.M1V

c.1A>G

1 paper

NM_001007025.2

p.M1T

c.2T>C

1 paper

NM_001007025.2

p.M1insFs

c.3dupG