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

2 papers

NM_001352702.2

p.L171delFs

c.511delA

Surrounding Variants

1 paper

NM_001352702.2

p.L171F

c.513G>T

1 paper

NM_001352702.2

p.L171F

c.513G>C

1 paper

NM_001352702.2

p.G172delFs

c.514delC

1 paper

NM_001352702.2

p.K170R

c.509A>G

1 paper

NM_001352702.2

p.L169M

c.505T>A

1 paper

NM_001352702.2

p.E175K

c.523G>A

1 paper

NM_001352702.2

p.E175A

c.524A>C

1 paper

NM_001352702.2

p.R177W

c.529C>T

1 paper

NM_001352702.2

p.E166A

c.497A>C

1 paper

NM_001352702.2

p.D161A

c.482A>C

1 paper

NM_001352702.2

p.E158A

c.473A>C

1 paper

NM_001352702.2

p.S153N

c.458G>A