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

1–12 of 661 variants

120 papers

NM_003467.3

p.R334*

c.1000C>T

119 papers

NM_003467.3

p.S338*

c.1013C>G

103 papers

NM_003467.3

p.S338*

c.1013C>A

39 papers

NM_003467.3

p.E343*

c.1027G>T

37 papers

NM_003467.3

p.G336*

c.1006G>T

27 papers

NM_003467.3

p.L267L

c.801G>A

26 papers

NM_003467.3

p.E343K

c.1027G>A

18 papers

NM_003467.3

p.S339fs

c.1015_1016fs

12 papers

NM_003467.3

p.L329fs

c.985_986fs

12 papers

NM_003467.3

p.S338fs

c.1012_1013fs

11 papers

NM_003467.3

p.S341fs

c.1021_1022fs

10 papers

NM_003467.3

p.T318fs

c.952_953fs