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.L829_D830Splc

c.2488-7T>C

Surrounding Variants

1 paper

NM_173176.3

p.L829_D830Splc

c.2488-22G>A

9 papers

NM_173176.3

p.K838T

c.2513A>C

2 papers

NM_173176.3

p.L841_T842Splc

c.2523+1G>A

1 paper

NM_173176.3

p.L841_T842Splc

c.2523+21G>A

1 paper

NM_173176.3

p.R805Q

c.2414G>A

3 papers

NM_173176.3

p.R790Q

c.2369G>A

1 paper

NM_173176.3

p.E781fs

c.2341_2342fs

1 paper

NM_173176.3

p.E781delFs

c.2341delG

1 paper

NM_173176.3

p.L850Splc

c.2548+54C>A

1 paper

NM_173176.3

p.L850Splc

c.2548+353T>C

1 paper

NM_173176.3

p.P855fs

c.2563_2564fs

3 papers

NM_173176.3

p.P859A

c.2575C>G