Varaico: Literature-Extracted Genetic Variants

FRK

140 papers

RefSeq Summary

The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [...

Pfam Domains

SH3_1aa 48–102UCSCSH3 domain

SH2aa 116–193UCSCSH2 domain

PK_Tyr_Ser-Thraa 234–487UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fyn related Src family tyrosine kinase

HGNC Previous Symbol

PTK5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 128 variants

11 papers

NM_002031.3

p.G122R

c.364G>C

11 papers

NM_002031.3

p.G122R

c.364G>A

5 papers

NM_002031.3

p.S133L

c.398C>T

3 papers

NM_002031.3

p.I100V

c.298A>G

3 papers

NM_002031.3

p.G119A

c.356G>C

3 papers

NM_002031.3

p.V162I

c.484G>A

3 papers

NM_002031.3

p.E346G

c.1037A>G

2 papers

NM_002031.3

p.R64*

c.190C>T

2 papers

NM_002031.3

p.K68R

c.203A>G

2 papers

NM_002031.3

p.S145N

c.434G>A

2 papers

NM_002031.3

p.R179*

c.535C>T

2 papers

NM_002031.3

p.E188K

c.562G>A