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

3 papers

NM_001352702.2

p.L1034S

c.3101T>C

Surrounding Variants

1 paper

NM_001352702.2

p.L1034V

c.3100T>G

1 paper

NM_001352702.2

p.L1038L

c.3112C>T

1 paper

NM_001352702.2

p.E1028Q

c.3082G>C

1 paper

NM_001352702.2

p.L1047L

c.3139C>T

1 paper

NM_001352702.2

p.K1061Q

c.3181A>C

1 paper

NM_001352702.2

p.T1093M

c.3278C>T

1 paper

NM_001352702.2

p.R1025*

c.3073C>T

1 paper

NM_001352702.2

p.D1013A

c.3038A>C

1 paper

NM_001352702.2

p.T1007insFs

c.3020_3021insC

1 paper

NM_001352702.2

p.A1004S

c.3010G>T

1 paper

NM_001352702.2

p.P990L

c.2969C>T

1 paper

NM_153831.4

p.S940G

c.2818A>G