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.R91W

c.271C>T

Surrounding Variants

1 paper

NM_001352702.2

p.E94A

c.281A>C

1 paper

NM_001352702.2

p.A81T

c.241G>A

1 paper

NM_001352702.2

p.D101A

c.302A>C

1 paper

NM_001352702.2

p.H79R

c.236A>G

1 paper

NM_001352702.2

p.S105A

c.313T>G

1 paper

NM_001352702.2

p.K76R

c.227A>G

1 paper

NM_001352702.2

p.K76T

c.227A>C

1 paper

NM_001352702.2

p.K76Q

c.226A>C

1 paper

NM_001352702.2

p.R108K

c.323G>A

1 paper

NM_001352702.2

p.R108R

c.324G>A

1 paper

NM_001352702.2

p.D73A

c.218A>C