Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_005246.4

p.S250P

c.748T>C

Surrounding Variants

1 paper

NM_005246.4

p.Q248*

c.742C>T

1 paper

NM_005246.4

p.N242S

c.725A>G

1 paper

NM_005246.4

p.I240T

c.719T>C

1 paper

NM_005246.4

p.S234Fs

c.702delinsAGFs

1 paper

NM_005246.4

p.I232K

c.695T>A

1 paper

NM_005246.4

p.Y229C

c.686A>G

1 paper

NM_005246.4

p.Y229N

c.685T>A

1 paper

NM_005246.4

p.R268delFs

c.804delA

1 paper

NM_005246.4

p.Q275*

c.823C>T

1 paper

NM_005246.4

p.T281I

c.842C>T

1 paper

NM_005246.4

p.Q291*

c.871C>T

1 paper

NM_005246.4

p.A221insFs

c.661dupG