Varaico: Literature-Extracted Genetic Variants

PTK6

95 papers

RefSeq Summary

The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epit...

Pfam Domains

SH3_1aa 14–64UCSCSH3 domain

SH2aa 78–155UCSCSH2 domain

PK_Tyr_Ser-Thraa 191–441UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

protein tyrosine kinase 6

HGNC Previous Name

PTK6 protein tyrosine kinase 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005975.4

p.L289L

c.867G>T

Surrounding Variants

2 papers

NM_005975.4

p.D312N

c.934G>A

1 paper

NM_005975.4

p.R311_D312delins

c.933_934delinsAA

1 paper

NM_005975.4

p.N317S

c.950A>G

2 papers

NM_005975.4

p.G321R

c.961G>C

2 papers

NM_005975.4

p.G321R

c.961G>A

1 paper

NM_005975.4

p.K327fs

c.979_980fs

1 paper

NM_005975.4

p.L336I

c.1006C>A

1 paper

NM_005975.4

p.K338R

c.1013A>G

1 paper

NM_005975.4

p.Y342*

c.1026C>G

1 paper

NM_005975.4

p.Y342*

c.1026C>A

1 paper

NM_005975.4

p.L343F

c.1027C>T

1 paper

NM_005975.4

p.N348N

c.1044T>C