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.K907E

c.2719A>G

Surrounding Variants

1 paper

NM_001352702.2

p.P914P

c.2742A>G

1 paper

NM_001352702.2

p.K915insFs

c.2744_2745insC

1 paper

NM_001352702.2

p.A930D

c.2789C>A

1 paper

NM_001352702.2

p.A936A

c.2808T>A

1 paper

NM_001352702.2

p.N940S

c.2819A>G

1 paper

NM_153831.4

p.E900K

c.2698G>A

1 paper

NM_001352702.2

p.S964A

c.2890T>G

1 paper

NM_153831.4

p.S940G

c.2818A>G

1 paper

NM_001352702.2

p.P990L

c.2969C>T