Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.Y787C

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
2 papers
NM_000760.4
p.Y787C
c.2360A>G
Surrounding Variants
1 paper
NM_000760.4
p.Y787insFs
c.2360dupA
11 papers
NM_000760.4
p.Y787*
c.2361T>G
NM_156039.3
p.Y814*
c.2442T>G
11 papers
NM_000760.4
p.Y787*
c.2361T>A
NM_156039.3
p.Y814*
c.2442T>A
6 papers
NM_000760.4
p.E788*
c.2362G>T
1 paper
NM_000760.4
p.S786fs
c.2356_2357fs
1 paper
NM_000760.4
p.P782_S786Fs
c.2345_2356delinsCFs
1 paper
NM_000760.4
p.S786insFs
c.2357_2358ins7
1 paper
NM_000760.4
p.S786fs
c.2356_2357fs
1 paper
NM_000760.4
p.N789T
c.2366A>C
1 paper
NM_000760.4
p.K785*
c.2353A>T
2 papers
NM_000760.4
p.S783_P784insFs
c.2347_2350dup4
2 papers
NM_000760.4
p.P784T
c.2350C>A
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