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

2 papers

NM_003467.3

p.E345*

c.1033G>T

Surrounding Variants

2 papers

NM_003467.3

p.S344insFs

c.1032dupT

1 paper

NM_003467.3

p.E345Q

c.1033G>C

1 paper

NM_003467.3

p.S344delFs

c.1031_1032delAG

1 paper

NM_003467.3

p.E345fs

c.1033_1034fs

5 papers

NM_003467.3

p.S344fs

c.1030_1031fs

2 papers

NM_003467.3

p.E345V

c.1034A>T

1 paper

NM_003467.3

p.E345A

c.1034A>C

1 paper

NM_003467.3

p.E345insFs

c.1034_1035insG

1 paper

NM_003467.3

p.S344_E345delFs

c.1032_1033delCA

1 paper

NM_003467.3

p.E345D

c.1035G>T

4 papers

NM_003467.3

p.E345fs

c.1033_1034fs

1 paper

NM_003467.3

p.E345D

c.1035G>C