Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.S783fs

CSF3R

779 papers

RefSeq Summary

The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is ...

Pfam Domains

Lep_receptor_Igaa 24–117UCSCIg-like C2-type domain
fn3aa 526–615UCSCFibronectin type III domain

Gene Aliases

HGNC Name

colony stimulating factor 3 receptor

HGNC Previous Symbol

CD114

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_000760.4
p.S783fs
c.2347_2348fs
Surrounding Variants
2 papers
NM_000760.4
p.P784T
c.2350C>A
2 papers
NM_000760.4
p.S783_P784insFs
c.2347_2350dup4
5 papers
NM_000760.4
p.S783fs
c.2347_2348fs
1 paper
NM_000760.4
p.S783G
c.2347A>G
6 papers
NM_000760.4
p.P782insFs
c.2346dupC
2 papers
NM_000760.4
p.P782delFs
c.2346delG
2 papers
NM_000760.4
p.P782fs
c.2344_2345fs
1 paper
NM_000760.4
p.K785*
c.2353A>T
1 paper
NM_000760.4
p.P782fs
c.2344_2345fs
3 papers
NM_000760.4
p.T781I
c.2342C>T
1 paper
NM_000760.4
p.S786fs
c.2356_2357fs
1 paper
NM_000760.4
p.S786insFs
c.2357_2358ins7
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