Varaico: Literature-Extracted Genetic Variants

Gene:CSF3
Variant:p.L99L

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.L99L
c.295C>T
Surrounding Variants
1 paper
NM_172219.3
p.L99_Q100insFs
c.297_298ins4
1 paper
NM_172219.3
p.L99L
c.297G>T
1 paper
NM_172219.3
p.A98_L99insA
c.292_296ins3
2 papers
NM_172219.3
p.L101L
c.301C>T
1 paper
NM_172219.3
p.S96S
c.288C>T
1 paper
NM_172219.3
p.L101_A102Splc
c.303+1G>A
1 paper
NM_172219.3
p.S92I
c.275G>T
1 paper
NM_172219.3
p.P90S
c.268C>T
1 paper
NM_172219.3
p.W88*
c.263G>A
1 paper
NM_172219.3
p.W88delFs
c.262delT
1 paper
NM_172219.3
p.I86delFs
c.256delA
1 paper
NM_172219.3
p.L84delFs
c.252delG
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