Varaico: Literature-Extracted Genetic Variants

Gene:CSF3
Variant:p.C47F

CSF3

390 papers

RefSeq Summary

This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cel...

Pfam Domains

GCSFaa 51–202UCSCGranulocyte colony-stimulating factor

Gene Aliases

HGNC Name

colony stimulating factor 3

HGNC Previous Symbols

GCSF; G-CSF; C17orf33

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172219.3
p.C47F
c.140G>T
Surrounding Variants
1 paper
NM_172219.3
p.C47W
c.141C>G
1 paper
NM_172219.3
p.L48insFs
c.144dupA
1 paper
NM_172219.3
p.E49K
c.145G>A
1 paper
NM_172219.3
p.E49G
c.146A>G
1 paper
NM_172219.3
p.L45_K46Fs
c.134_136delinsCCFs
3 papers
NM_172219.3
p.L44L
c.130C>T
1 paper
NM_172219.3
p.V51L
c.151G>C
1 paper
NM_172219.3
p.V51L
c.151G>T
1 paper
NM_172219.3
p.V51A
c.152T>C
1 paper
NM_172219.3
p.K53_I54delFs
c.157_160del4
1 paper
NM_172219.3
p.K53N
c.159G>C
1 paper
NM_172219.3
p.L39P
c.116T>C
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