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

1–12 of 201 variants

12 papers

NM_173176.3

p.Y402F

c.1205A>T

9 papers

NM_173176.3

p.K838T

c.2513A>C

4 papers

NM_173176.3

p.K54K

c.162A>G

4 papers

NM_173176.3

p.T65M

c.194C>T

4 papers

NM_173176.3

p.A864V

c.2591C>T

4 papers

NM_173176.3

p.Y881F

c.2642A>T

3 papers

NM_173176.3

p.I260V

c.778A>G

3 papers

NM_173176.3

p.G414R

c.1240G>A

3 papers

NM_173176.3

p.G414R

c.1240G>C

3 papers

NM_173176.3

p.G414V

c.1241G>T

3 papers

NM_173176.3

p.R429C

c.1285C>T

3 papers

NM_173176.3

p.P651L

c.1952C>T