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.A316V

c.947C>T

Surrounding Variants

2 papers

NM_003467.3

p.H315_A316insFs

c.945_946insC

3 papers

NM_003467.3

p.A316T

c.946G>A

2 papers

NM_003467.3

p.A316fs

c.946_947fs

1 paper

NM_003467.3

p.L317F

c.949C>T

2 papers

NM_003467.3

p.H315fs

c.943_944fs

1 paper

NM_003467.3

p.H315_A316insFs

c.945_946insA

1 paper

NM_003467.3

p.L317insFs

c.949_950insC

1 paper

NM_003467.3

p.L317_T318insFs

c.951_952insT

2 papers

NM_003467.3

p.L317fs

c.949_950fs

3 papers

NM_003467.3

p.T318fs

c.952_953fs

1 paper

NM_003467.3

p.T318A

c.952A>G

3 papers

NM_003467.3

p.T318P

c.952A>C