Varaico: Literature-Extracted Genetic Variants

PTK2

411 papers

RefSeq Summary

This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The enc...

Pfam Domains

FERM_N_2aa 35–121UCSCFERM N-terminal domain

FERM_N_2aa 35–130UCSCFERM N-terminal domain

FERM_Maa 133–258UCSCFERM central domain

FERM_C_FAK1aa 260–358UCSCFAK1/PYK2, FERM domain C-lobe

PK_Tyr_Ser-Thraa 422–676UCSCProtein tyrosine and serine/threonine kinase

Focal_ATaa 914–1046UCSCFocal adhesion targeting region

Gene Aliases

HGNC Name

protein tyrosine kinase 2

HGNC Alias Symbols

FAK; FADK; FAK1; PPP1R71

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001352702.2

p.R462S

c.1386A>C

Surrounding Variants

1 paper

NM_001352702.2

p.R462S

c.1386A>T

1 paper

NM_001352702.2

p.I463T

c.1388T>C

1 paper

NM_001352702.2

p.G466A

c.1397G>C

1 paper

NM_001352702.2

p.Y482F

c.1445A>T

1 paper

NM_001352702.2

p.M483I

c.1449G>A

1 paper

NM_001352702.2

p.D451N

c.1351G>A

1 paper

NM_001352702.2

p.I450V

c.1348A>G

1 paper

NM_001352702.2

p.S502_D503insYA

c.1504_1508ins6

1 paper

NM_001352702.2

p.R506_F509delFs

c.1517_1527del11

1 paper

NM_001352702.2

p.A513T

c.1537G>A

1 paper

NM_001352702.2

p.K402R

c.1205A>G

1 paper

NM_001352702.2

p.C397_Q398insFs

c.1191_1192insG