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.R85fs

c.253_254fs

Surrounding Variants

1 paper

NM_004287.5

p.R85delFs

c.254delG

1 paper

NM_004287.5

p.D71E

c.213C>A

1 paper

NM_004287.5

p.D71E

c.213C>G

1 paper

NM_004287.5

p.E98D

c.294G>C

1 paper

NM_004287.5

p.E98D

c.294G>T

1 paper

NM_004287.5

p.E102fs

c.304_305fs

1 paper

NM_004287.5

p.E102delFs

c.305delA

2 papers

NM_004287.5

p.L68Splc

c.204-7A>G

4 papers

NM_004287.5

p.R107*

c.319C>T

1 paper

NM_004287.5

p.T108P

c.322A>C

7 papers

NM_004287.5

p.N112_D113Splc

c.336+1G>A

1 paper

NM_004287.5

p.L68Splc

c.203+1G>A