Varaico: Literature-Extracted Genetic Variants

GOSR2

97 papers

RefSeq Summary

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be in...

Pfam Domains

BOS1_GOSR2_MEM11-like_Naa 1–89UCSCBOS1/GOSR2/MEM11, N-terminal domain

BOS1_GOSR2_MEM11-like_Naa 1–107UCSCBOS1/GOSR2/MEM11, N-terminal domain

V-SNARE_Caa 121–186UCSCSnare region anchored in the vesicle membrane C-terminus

Gene Aliases

HGNC Name

golgi SNAP receptor complex member 2

HGNC Alias Symbols

GS27; Bos1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004287.5

p.R50H

c.149G>A

Surrounding Variants

1 paper

NM_004287.5

p.R50C

c.148C>T

1 paper

NM_004287.5

p.I53F

c.157A>T

1 paper

NM_004287.5

p.R47C

c.139C>T

1 paper

NM_004287.5

p.S46S

c.138C>T

1 paper

NM_004287.5

p.K57insFs

c.171dupG

1 paper

NM_004287.5

p.K57R

c.170A>G

1 paper

NM_004287.5

p.I37I

c.111C>T

1 paper

NM_004287.5

p.I37F

c.109A>T

8 papers

NM_004287.5

p.R67K

c.200G>A

1 paper

NM_004287.5

p.L68Splc

c.203+1G>A

1 paper

NM_004287.5

p.I32Splc

c.95-41A>G

2 papers

NM_004287.5

p.L68Splc

c.204-7A>G