Varaico: Literature-Extracted Genetic Variants

Gene:FER
Variant:p.L612F

FER

228 papers

RefSeq Summary

The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the c...

Pfam Domains

FCHaa 10–87UCSCFes/CIP4, and EFC/F-BAR homology domain
SH2aa 460–531UCSCSH2 domain
PK_Tyr_Ser-Thraa 563–814UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

FER tyrosine kinase

HGNC Alias Symbols

TYK3; PPP1R74

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005246.4
p.L612F
c.1834C>T
Surrounding Variants
1 paper
NM_005246.4
p.L612_G625ins4
c.1836_1874dup39
1 paper
NM_005246.4
p.K613_V626insFs
c.1838_1877dup40
1 paper
NM_005246.4
p.Q614_K622ins3
c.1842_1865dup24
1 paper
NM_005246.4
p.H617insFs
c.1850dupA
1 paper
NM_005246.4
p.N619_G625ins2
c.1855_1875dup21
1 paper
NM_005246.4
p.K622ins1
c.1865_1866insGAA
1 paper
NM_005246.4
p.T628I
c.1883C>T
1 paper
NM_005246.4
p.Q629insFs
c.1886dupA
1 paper
NM_005246.4
p.Q629H
c.1887A>C
1 paper
NM_005246.4
p.Q629H
c.1887A>T
1 paper
NM_005246.4
p.Y634F
c.1901A>T
1 paper
NM_005246.4
p.I636N
c.1907T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."