Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.T781I

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
3 papers
NM_000760.4
p.T781I
c.2342C>T
Surrounding Variants
3 papers
NM_000760.4
p.T781insFs
c.2341_2342insC
3 papers
NM_000760.4
p.L780fs
c.2338_2339fs
1 paper
NM_000760.4
p.P782fs
c.2344_2345fs
2 papers
NM_000760.4
p.P782fs
c.2344_2345fs
1 paper
NM_000760.4
p.G779delFs
c.2336delC
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
17 papers
NM_000760.4
p.S783fs
c.2347_2348fs
1 paper
NM_000760.4
p.A778A
c.2334G>T
1 paper
NM_000760.4
p.L777_A778insFs
c.2330_2333dup4
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