Varaico: Literature-Extracted Genetic Variants

PTK2B

225 papers

RefSeq Summary

This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may repr...

Pfam Domains

FERM_N_2aa 39–137UCSCFERM N-terminal domain

FERM_Maa 141–265UCSCFERM central domain

FERM_C_FAK1aa 267–362UCSCFAK1/PYK2, FERM domain C-lobe

PK_Tyr_Ser-Thraa 425–679UCSCProtein tyrosine and serine/threonine kinase

Focal_ATaa 870–1002UCSCFocal adhesion targeting region

Gene Aliases

HGNC Name

protein tyrosine kinase 2 beta

HGNC Previous Symbol

FAK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_173176.3

p.S559F

c.1676C>T

Surrounding Variants

1 paper

NM_173176.3

p.V563E

c.1688T>A

1 paper

NM_173176.3

p.L565P

c.1694T>C

1 paper

NM_173176.3

p.D567N

c.1699G>A

1 paper

NM_173176.3

p.L570P

c.1709T>C

1 paper

NM_173176.3

p.S571F

c.1712C>T

2 papers

NM_173176.3

p.R572W

c.1714C>T

1 paper

NM_173176.3

p.R572Q

c.1715G>A

2 papers

NM_173176.3

p.E577K

c.1729G>A

2 papers

NM_173176.3

p.Y579F

c.1736A>T

2 papers

NM_173176.3

p.Y580F

c.1739A>T

2 papers

NM_173176.3

p.R586C

c.1756C>T

1 paper

NM_173176.3

p.R600Q

c.1799G>A