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.M658_Y664delFs

c.1974_1992del19

Surrounding Variants

3 papers

NM_173176.3

p.P652L

c.1955C>T

3 papers

NM_173176.3

p.P651L

c.1952C>T

1 paper

NM_173176.3

p.R671R

c.2013C>A

1 paper

NM_173176.3

p.V637L

c.1909G>C

1 paper

NM_173176.3

p.V637L

c.1909G>T

1 paper

NM_173176.3

p.S680Splc

c.2039+6C>T

1 paper

NM_173176.3

p.L619L

c.1855C>T

1 paper

NM_173176.3

p.A612V

c.1835C>T

1 paper

NM_173176.3

p.A612V

c.1835C>T

1 paper

NM_173176.3

p.M610I

c.1830G>A

1 paper

NM_173176.3

p.M610I

c.1830G>C

1 paper

NM_173176.3

p.M610I

c.1830G>T