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.R918W

c.2752C>T

Surrounding Variants

1 paper

NM_173176.3

p.R918Q

c.2753G>A

1 paper

NM_173176.3

p.K919T

c.2756A>C

1 paper

NM_173176.3

p.K911_N912Splc

c.2734-8C>T

1 paper

NM_173176.3

p.R936Q

c.2807G>A

1 paper

NM_173176.3

p.T937A

c.2809A>G

1 paper

NM_173176.3

p.E938K

c.2812G>A

2 papers

NM_173176.3

p.E938_I939Splc

c.2814+7G>A

1 paper

NM_173176.3

p.V907M

c.2719G>A

1 paper

NM_173176.3

p.P903delFs

c.2709delC

1 paper

NM_173176.3

p.K895E

c.2683A>G

1 paper

NM_173176.3

p.V891M

c.2671G>A

4 papers

NM_173176.3

p.Y881F

c.2642A>T