Varaico: Literature-Extracted Genetic Variants

CXCR4

764 papers

RefSeq Summary

This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to suppo...

Pfam Domains

CXCR4_Naa 6–38UCSCCXCR4 Chemokine receptor N terminal

7tm_1aa 55–302UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

C-X-C motif chemokine receptor 4

HGNC Alias Symbols

LESTR; NPY3R; HM89; NPYY3R; D2S201E; fusin; HSY3RR; NPYR; CD184

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003467.3

p.K331R

c.992A>G

Surrounding Variants

1 paper

NM_003467.3

p.K331*

c.991A>T

1 paper

NM_003467.3

p.K331Q

c.991A>C

1 paper

NM_003467.3

p.K331fs

c.991_992fs

4 papers

NM_003467.3

p.G332*

c.994G>T

1 paper

NM_003467.3

p.K331_G332insFs

c.993_994insA

1 paper

NM_003467.3

p.S330fs

c.988_989fs

2 papers

NM_003467.3

p.S330delFs

c.988_989delGA

1 paper

NM_003467.3

p.G332fs

c.994_995fs

1 paper

NM_003467.3

p.G332E

c.995G>A

2 papers

NM_003467.3

p.S330A

c.988T>G

3 papers

NM_003467.3

p.S330fs

c.988_989fs

2 papers

NM_003467.3

p.G332fs

c.994_995fs