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.Q188*

c.562C>T

Surrounding Variants

1 paper

NM_004287.5

p.M193T

c.578T>C

1 paper

NM_004287.5

p.I194delFs

c.580delA

1 paper

NM_004287.5

p.G195A

c.584G>C

1 paper

NM_001321134.2

p.L107L

c.319C>T

2 papers

NM_004287.5

p.N170S

c.509A>G

2 papers

NM_004287.5

p.V207M

c.619G>A

1 paper

NM_004287.5

p.Y210S

c.629A>C

1 paper

NM_004287.5

p.I165F

c.493A>T

1 paper

NM_004287.5

p.K164_I165delFs

c.491_495del5

12 papers

NM_004287.5

p.K164del1

c.490_491delAAG

1 paper

NM_004287.5

p.K159del1

c.475_476delAAG

1 paper

NM_004287.5

p.L148S

c.443T>C