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_153831.4

p.N629D

c.1885A>G

Surrounding Variants

1 paper

NM_001352702.2

p.V672V

c.2016A>T

1 paper

NM_001352702.2

p.P683_M684delFs

c.2049_2050delTT

1 paper

NM_001352702.2

p.M653L

c.1957A>T

1 paper

NM_001352702.2

p.C652R

c.1954T>C

1 paper

NM_001352702.2

p.R707fs

c.2119_2120fs

1 paper

NM_001352702.2

p.I635N

c.1904T>A

1 paper

NM_001352702.2

p.A620insFs

c.1859_1860insC

1 paper

NM_001387628.1

p.R569L

c.1706G>T

1 paper

NM_001352702.2

p.F606L

c.1818T>G

1 paper

NM_001352702.2

p.F606L

c.1818T>A

1 paper

NM_001352702.2

p.F606L

c.1816T>C

1 paper

NM_001352702.2

p.K581E

c.1741A>G