Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.E546A

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
1 paper
NM_000760.4
p.E546A
c.1637A>C
Surrounding Variants
1 paper
NM_000760.4
p.W547_V548insAA
c.1639_1643ins6
22 papers
NM_000760.4
p.W547*
c.1640G>A
22 papers
NM_000760.4
p.W547*
c.1641G>A
1 paper
NM_000760.4
p.Q544E
c.1630C>G
1 paper
NM_000760.4
p.P549S
c.1645C>T
1 paper
NM_000760.4
p.P549delFs
c.1646delG
1 paper
NM_000760.4
p.A543T
c.1627G>A
1 paper
NM_000760.4
p.E550K
c.1648G>A
1 paper
NM_000760.4
p.P551L
c.1652C>T
1 paper
NM_000760.4
p.T541P
c.1621A>C
1 paper
NM_000760.4
p.P552H
c.1655C>A
2 papers
NM_000760.4
p.P552fs
c.1654_1655fs
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