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.G152G

c.456A>T

Surrounding Variants

1 paper

NM_001007025.2

p.S151P

c.451T>C

1 paper

NM_001007025.2

p.N154K

c.462C>A

1 paper

NM_001007025.2

p.G150delFs

c.449delG

2 papers

NM_001007025.2

p.L160L

c.478C>T

1 paper

NM_001007025.2

p.L162fs

c.484_485fs

1 paper

NM_001007025.2

p.K163R

c.488A>G

1 paper

NM_001007025.2

p.E164delFs

c.492delA

1 paper

NM_001007025.2

p.D166D

c.498C>T

1 paper

NM_001007025.2

p.N170Splc

c.509+1G>A

2 papers

NM_001007025.2

p.D143N

c.427G>A

1 paper

NM_001007025.2

p.R141P

c.422G>C

1 paper

NM_001007025.2

p.R141L

c.422G>T