Varaico: Literature-Extracted Genetic Variants

LTK

168 papers

RefSeq Summary

The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading t...

Pfam Domains

ALK_LTK_GRDaa 113–383UCSCALK/LTK, Glycine-rich domain

PK_Tyr_Ser-Thraa 510–777UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

leukocyte receptor tyrosine kinase

HGNC Alias Symbol

TYK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002344.6

p.R863C

c.2587C>T

Surrounding Variants

2 papers

NM_002344.6

p.Y862F

c.2585A>T

1 paper

NM_002344.6

p.L844V

c.2530C>G

2 papers

NM_002344.6

p.L844I

c.2530C>A

1 paper

NM_002344.6

p.W831C

c.2493G>T

1 paper

NM_002344.6

p.W831C

c.2493G>C

6 papers

NM_002344.6

p.E813*

c.2437G>T

2 papers

NM_002344.6

p.S811Y

c.2432C>A

1 paper

NM_002344.6

p.R810I

c.2429G>T

1 paper

NM_002344.6

p.S789P

c.2365T>C

1 paper

NM_002344.6

p.Q782_D783Splc

c.2346+6C>T

2 papers

NM_002344.6

p.Y779F

c.2336A>T

1 paper

NM_002344.6

p.A771_E775ins1

c.2313_2324dup12