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.M33R

c.98T>G

Surrounding Variants

1 paper

NM_001352702.2

p.M33delFs

c.97delT

1 paper

NM_001352702.2

p.M33I

c.99G>A

1 paper

NM_001352702.2

p.E34V

c.101A>T

1 paper

NM_001352702.2

p.E27D

c.81A>T

1 paper

NM_001352702.2

p.Y42F

c.125A>T

1 paper

NM_001352702.2

p.S45I

c.134G>T

1 paper

NM_001352702.2

p.T18I

c.53C>T

1 paper

NM_001352702.2

p.S17S

c.51T>C

1 paper

NM_001352702.2

p.P49L

c.146C>T

1 paper

NM_001352702.2

p.T50S

c.148A>T

1 paper

NM_001352702.2

p.S16L

c.47C>T

1 paper

NM_001352702.2

p.T50S

c.149C>G