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.K225*

c.673A>T

Surrounding Variants

1 paper

NM_173176.3

p.K225E

c.673A>G

1 paper

NM_173176.3

p.Q226L

c.677A>T

1 paper

NM_173176.3

p.A239S

c.715G>T

1 paper

NM_173176.3

p.E245*

c.733G>T

1 paper

NM_173176.3

p.M248V

c.742A>G

1 paper

NM_173176.3

p.M248I

c.744G>A

1 paper

NM_173176.3

p.M248I

c.744G>C

1 paper

NM_173176.3

p.M248I

c.744G>T

1 paper

NM_173176.3

p.K249M

c.746A>T

1 paper

NM_173176.3

p.N259S

c.776A>G

3 papers

NM_173176.3

p.I260V

c.778A>G

2 papers

NM_173176.3

p.T264N

c.791C>A