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.S347L

c.1040C>T

Surrounding Variants

1 paper

NM_003467.3

p.S346delFs

c.1037_1038delAG

1 paper

NM_003467.3

p.S346_S347delFs

c.1037_1040del4

1 paper

NM_003467.3

p.S344_S347Fs

c.1030_1041delinsGTFs

1 paper

NM_003467.3

p.S346A

c.1036T>G

1 paper

NM_003467.3

p.E345delFs

c.1034_1035delCT

1 paper

NM_003467.3

p.S347_S348delFs

c.1040_1043del4

3 papers

NM_003467.3

p.S346fs

c.1036_1037fs

1 paper

NM_003467.3

p.S348delFs

c.1043_1044delAC

1 paper

NM_003467.3

p.S346_S348delFs

c.1037_1044del8

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