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.K186N

c.558A>T

Surrounding Variants

1 paper

NM_001007025.2

p.T185T

c.555A>T

1 paper

NM_001007025.2

p.K186del1

c.556_558delAAA

1 paper

NM_001007025.2

p.T185A

c.553A>G

1 paper

NM_001007025.2

p.N188S

c.563A>G

1 paper

NM_001007025.2

p.N188I

c.563A>T

1 paper

NM_001007025.2

p.M183I

c.549G>A

2 papers

NM_001007025.2

p.S191P

c.571T>C

1 paper

NM_001007025.2

p.S191*

c.572C>G

2 papers

NM_001007025.2

p.Q192*

c.574C>T

1 paper

NM_001007025.2

p.L206*

c.617T>A

1 paper

NM_001007025.2

p.R209C

c.625C>T

1 paper

NM_001007025.2

p.F210C

c.629T>G