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

1–12 of 63 variants

38 papers

NM_004287.5

p.G144W

c.430G>T

12 papers

NM_004287.5

p.K164del1

c.490_491delAAG

9 papers

NM_004287.5

p.M1R

c.2T>G

8 papers

NM_004287.5

p.R67K

c.200G>A

7 papers

NM_004287.5

p.Q28*

c.82C>T

7 papers

NM_004287.5

p.N112_D113Splc

c.336+1G>A

5 papers

NM_004287.5

p.T8insFs

c.22dupA

4 papers

NM_004287.5

p.T8fs

c.22_23fs

4 papers

NM_004287.5

p.R107*

c.319C>T

2 papers

NM_004287.5

p.M1L

c.1A>C

2 papers

NM_004287.5

p.M1L

c.1A>T

2 papers

NM_004287.5

p.L68Splc

c.204-7A>G