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

Selected Variant

3 papers

NM_002031.3

p.I100V

c.298A>G

Surrounding Variants

1 paper

NM_002031.3

p.A106A

c.318T>G

1 paper

NM_002031.3

p.D108N

c.322G>A

1 paper

NM_002031.3

p.R88I

c.263G>T

1 paper

NM_002031.3

p.R88*

c.262A>T

1 paper

NM_002031.3

p.P115Splc

c.344+6T>C

1 paper

NM_002031.3

p.G78V

c.233G>T

1 paper

NM_002031.3

p.L69P

c.206T>C

2 papers

NM_002031.3

p.K68R

c.203A>G

2 papers

NM_002031.3

p.R64*

c.190C>T

1 paper

NM_002031.3

p.Q54K

c.160C>A

1 paper

NM_002031.3

p.Q41L

c.122A>T

1 paper

NM_002031.3

p.S40insFs

c.118_119insGT