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.G415Splc

c.1243+25G>T

Surrounding Variants

3 papers

NM_173176.3

p.G414V

c.1241G>T

3 papers

NM_173176.3

p.G414R

c.1240G>A

3 papers

NM_173176.3

p.G414R

c.1240G>C

1 paper

NM_173176.3

p.A403delFs

c.1209delA

12 papers

NM_173176.3

p.Y402F

c.1205A>T

1 paper

NM_173176.3

p.Y402D

c.1204T>G

1 paper

NM_173176.3

p.D424Y

c.1270G>T

3 papers

NM_173176.3

p.R429C

c.1285C>T

1 paper

NM_173176.3

p.R429H

c.1286G>A

1 paper

NM_173176.3

p.F436fs

c.1306_1307fs

1 paper

NM_173176.3

p.V439A

c.1316T>C

1 paper

NM_173176.3

p.Y440C

c.1319A>G