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

1–12 of 183 variants

4 papers

NM_001352702.2

p.Y783F

c.2348A>T

3 papers

NM_001352702.2

p.L1034S

c.3101T>C

2 papers

NM_001352702.2

p.R91W

c.271C>T

2 papers

NM_001352702.2

p.D140N

c.418G>A

2 papers

NM_001352702.2

p.L171delFs

c.511delA

2 papers

NM_001352702.2

p.Y577F

c.1730A>T

1 paper

NM_001352702.2

p.M1T

c.2T>C

1 paper

NM_001352702.2

p.M1insFs

c.2_3insT

1 paper

NM_001352702.2

p.L6F

c.16C>T

1 paper

NM_001352702.2

p.L6R

c.17T>G

1 paper

NM_001352702.2

p.N9H

c.25A>C

1 paper

NM_001352702.2

p.L10V

c.28T>G