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.D121G

c.362A>G

Surrounding Variants

2 papers

NM_004287.5

p.E122K

c.364G>A

1 paper

NM_004287.5

p.M120_S129delFs

c.360_387del28

1 paper

NM_004287.5

p.S123S

c.369A>G

1 paper

NM_004287.5

p.D115insFs

c.344dupA

1 paper

NM_004287.5

p.Q131H

c.393G>C

1 paper

NM_004287.5

p.Q131H

c.393G>T

1 paper

NM_004287.5

p.K132R

c.395A>G

1 paper

NM_004287.5

p.D138_I147delFs

c.414_441del28

38 papers

NM_004287.5

p.G144W

c.430G>T

1 paper

NM_004287.5

p.L148S

c.443T>C

1 paper

NM_004287.5

p.L148insFs

c.444dupA

1 paper

NM_004287.5

p.K159del1

c.475_476delAAG