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

2 papers

NM_002344.6

p.E763K

c.2287G>A

Surrounding Variants

1 paper

NM_002344.6

p.R754H

c.2261G>A

2 papers

NM_002344.6

p.Y753F

c.2258A>T

1 paper

NM_002344.6

p.A771_E775ins1

c.2313_2324dup12

2 papers

NM_002344.6

p.Y779F

c.2336A>T

1 paper

NM_002344.6

p.Q782_D783Splc

c.2346+6C>T

4 papers

NM_002344.6

p.V752L

c.2254G>T

1 paper

NM_002344.6

p.C748fs

c.2242_2243fs

1 paper

NM_002344.6

p.P745S

c.2233C>T

1 paper

NM_002344.6

p.R727_G740del14

c.2179_2219del42

1 paper

NM_002344.6

p.R741W

c.2221C>T

1 paper

NM_002344.6

p.V737I

c.2209G>A

1 paper

NM_002344.6

p.S789P

c.2365T>C