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

120 papers

NM_003467.3

p.R334*

c.1000C>T

Surrounding Variants

1 paper

NM_003467.3

p.G332_K333delFs

c.995_999del5

2 papers

NM_003467.3

p.R334Q

c.1001G>A

1 paper

NM_003467.3

p.K333R

c.998A>G

3 papers

NM_003467.3

p.G335S

c.1003G>A

3 papers

NM_003467.3

p.K333*

c.997A>T

2 papers

NM_003467.3

p.G332fs

c.994_995fs

1 paper

NM_003467.3

p.G332E

c.995G>A

37 papers

NM_003467.3

p.G336*

c.1006G>T

4 papers

NM_003467.3

p.G332*

c.994G>T

1 paper

NM_003467.3

p.G335insFs

c.1005dupT

1 paper

NM_003467.3

p.K331_G332insFs

c.993_994insA

1 paper

NM_003467.3

p.G336R

c.1006G>C