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.D115G

c.344A>G

Surrounding Variants

1 paper

NM_001007025.2

p.H121Y

c.361C>T

1 paper

NM_001007025.2

p.A125T

c.373G>A

1 paper

NM_001007025.2

p.E132G

c.395A>G

1 paper

NM_001007025.2

p.N135S

c.404A>G

1 paper

NM_001007025.2

p.N135delFs

c.405delT

1 paper

NM_001007025.2

p.L136Fs

c.408delinsTTFs

1 paper

NM_001007025.2

p.G138R

c.412G>A

1 paper

NM_001007025.2

p.G138R

c.412G>C

1 paper

NM_001007025.2

p.R141G

c.421C>G

1 paper

NM_001007025.2

p.R141P

c.422G>C

1 paper

NM_001007025.2

p.R141L

c.422G>T

2 papers

NM_001007025.2

p.D143N

c.427G>A