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.W9R

c.25T>C

Surrounding Variants

1 paper

NM_001007025.2

p.S7R

c.21T>A

1 paper

NM_001007025.2

p.S7R

c.21T>G

1 paper

NM_001007025.2

p.S7R

c.19A>C

1 paper

NM_001007025.2

p.D11Splc

c.31+1G>A

1 paper

NM_001007025.2

p.D11Splc

c.31+2T>C

1 paper

NM_001007025.2

p.D11Splc

c.31+4A>C

1 paper

NM_001007025.2

p.T5S

c.14C>G

1 paper

NM_001007025.2

p.T5delFs

c.14_15delCC

1 paper

NM_001007025.2

p.G4G

c.12G>C

1 paper

NM_001007025.2

p.A2delins

c.4delinsA

1 paper

NM_001007025.2

p.A2_A3insT

c.4_8ins3

1 paper

NM_001007025.2

p.A2Fs

c.4_5delinsGTTTGCCFs