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

1–12 of 239 variants

6 papers

NM_002344.6

p.E813*

c.2437G>T

5 papers

NM_002344.6

p.D535N

c.1603G>A

5 papers

NM_002344.6

p.R606Q

c.1817G>A

4 papers

NM_002344.6

p.G213delins

c.639delinsTGGCGGGGGC

4 papers

NM_002344.6

p.P227L

c.680C>T

4 papers

NM_002344.6

p.R243Q

c.728G>A

4 papers

NM_002344.6

p.S264C

c.790A>T

4 papers

NM_002344.6

p.A683S

c.2047G>T

4 papers

NM_002344.6

p.V752L

c.2254G>T

3 papers

NM_002344.6

p.P465fs

c.1393_1394fs

3 papers

NM_002344.6

p.V541I

c.1621G>A

3 papers

NM_002344.6

p.K544M

c.1631A>T