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

2 papers

NM_001007025.2

p.K14R

c.41A>G

Surrounding Variants

1 paper

NM_001007025.2

p.Q15*

c.43C>T

1 paper

NM_001007025.2

p.Q15L

c.44A>T

1 paper

NM_001007025.2

p.R13K

c.38G>A

1 paper

NM_001007025.2

p.K14_Q15del2

c.40_44del6

1 paper

NM_001007025.2

p.L12F

c.34C>T

1 paper

NM_001007025.2

p.Q18L

c.53A>T

1 paper

NM_001007025.2

p.L19L

c.55C>T

1 paper

NM_001007025.2

p.E20delFs

c.58delG

1 paper

NM_001007025.2

p.L23L

c.69T>C

1 paper

NM_001007025.2

p.L25_K26delFs

c.75_76delGA

1 paper

NM_001007025.2

p.F30Y

c.89T>A

1 paper

NM_001007025.2

p.K32E

c.94A>G