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.V449A

c.1346T>C

Surrounding Variants

1 paper

NM_002344.6

p.K452N

c.1356G>T

1 paper

NM_002344.6

p.K452fs

c.1354_1355fs

1 paper

NM_002344.6

p.K452N

c.1356G>C

1 paper

NM_002344.6

p.K453del1

c.1357_1358delCTT

3 papers

NM_002344.6

p.P465fs

c.1393_1394fs

1 paper

NM_002344.6

p.P465delFs

c.1393_1394delGG

1 paper

NM_002344.6

p.I477V

c.1429A>G

2 papers

NM_002344.6

p.A480T

c.1438G>A

1 paper

NM_002344.6

p.N482S

c.1445A>G

2 papers

NM_002344.6

p.Y485F

c.1454A>T

1 paper

NM_002344.6

p.A493T

c.1477G>A

1 paper

NM_002344.6

p.P499L

c.1496C>T