Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.L329fs

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.L329fs
c.985_986fs
Surrounding Variants
1 paper
NM_003467.3
p.L329I
c.985C>A
1 paper
NM_003467.3
p.I328fs
c.982_983fs
1 paper
NM_003467.3
p.I328insFs
c.982dupA
1 paper
NM_003467.3
p.L329_S330insFs
c.987_988ins8
12 papers
NM_003467.3
p.L329fs
c.985_986fs
2 papers
NM_003467.3
p.S330A
c.988T>G
2 papers
NM_003467.3
p.I328fs
c.982_983fs
3 papers
NM_003467.3
p.S330fs
c.988_989fs
1 paper
NM_003467.3
p.K327delFs
c.981delC
7 papers
NM_003467.3
p.K327fs
c.979_980fs
1 paper
NM_003467.3
p.S330fs
c.988_989fs
2 papers
NM_003467.3
p.S330delFs
c.988_989delGA
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