Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.E343D

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.E343D
c.1029G>T
Surrounding Variants
1 paper
NM_003467.3
p.E343insFs
c.1028dupA
1 paper
NM_003467.3
p.S341_E343insFs
c.1022_1028dup7
2 papers
NM_003467.3
p.E343D
c.1029G>C
1 paper
NM_003467.3
p.T342_E343delFs
c.1025_1028del4
1 paper
NM_003467.3
p.S344insFs
c.1030_1031ins8
1 paper
NM_003467.3
p.S344A
c.1030T>G
1 paper
NM_003467.3
p.E343delFs
c.1028_1029delCT
1 paper
NM_003467.3
p.S344fs
c.1030_1031fs
1 paper
NM_003467.3
p.E343G
c.1028A>G
3 papers
NM_003467.3
p.E343A
c.1028A>C
39 papers
NM_003467.3
p.E343*
c.1027G>T
1 paper
NM_003467.3
p.T342insFs
c.1026dupT
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