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

2 papers

NM_173176.3

p.T15T

c.45G>A

Surrounding Variants

1 paper

NM_173176.3

p.K12K

c.36G>A

1 paper

NM_173176.3

p.R10R

c.30A>G

2 papers

NM_173176.3

p.R10Q

c.29G>A

1 paper

NM_173176.3

p.R10L

c.29G>T

2 papers

NM_173176.3

p.S9S

c.27T>C

1 paper

NM_173176.3

p.P25S

c.73C>T

1 paper

NM_173176.3

p.M26V

c.76A>G

1 paper

NM_173176.3

p.V4V

c.12G>A

1 paper

NM_173176.3

p.V4V

c.12G>C

1 paper

NM_173176.3

p.V28A

c.83T>C

1 paper

NM_173176.3

p.V29V

c.87A>T

1 paper

NM_173176.3

p.M1K

c.2T>A