Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S312A

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.S312A
c.934T>G
Surrounding Variants
5 papers
NM_003467.3
p.T311fs
c.931_932fs
1 paper
NM_003467.3
p.T311insFs
c.932_933insT
1 paper
NM_003467.3
p.T311N
c.932C>A
2 papers
NM_003467.3
p.T311fs
c.931_932fs
1 paper
NM_003467.3
p.K310E
c.928A>G
1 paper
NM_003467.3
p.F309L
c.927T>G
1 paper
NM_003467.3
p.F309L
c.927T>A
1 paper
NM_003467.3
p.F309L
c.925T>C
2 papers
NM_003467.3
p.H315fs
c.943_944fs
1 paper
NM_003467.3
p.H315_A316insFs
c.945_946insA
2 papers
NM_003467.3
p.H315_A316insFs
c.945_946insC
3 papers
NM_003467.3
p.A316T
c.946G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."