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.E139Q

c.415G>C

Surrounding Variants

2 papers

NM_001352702.2

p.D140N

c.418G>A

1 paper

NM_001352702.2

p.K141K

c.423G>A

1 paper

NM_001352702.2

p.Q136R

c.407A>G

1 paper

NM_001352702.2

p.T143_L144delFs

c.429_430delAA

1 paper

NM_001352702.2

p.G132V

c.395G>T

1 paper

NM_001352702.2

p.G132E

c.395G>A

1 paper

NM_001352702.2

p.K131E

c.391A>G

1 paper

NM_001352702.2

p.P130L

c.389C>T

1 paper

NM_001352702.2

p.P130S

c.388C>T

1 paper

NM_001352702.2

p.Y128delFs

c.382_383delTA

1 paper

NM_001352702.2

p.R127H

c.380G>A

1 paper

NM_001352702.2

p.R127C

c.379C>T