Varaico: Literature-Extracted Genetic Variants

Gene:LTK
Variant:p.P252L

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
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.P252L
c.755C>T
Surrounding Variants
1 paper
NM_002344.6
p.R243_R247del5
c.727_740del15
1 paper
NM_002344.6
p.R243_R247delFs
c.727_740del14
1 paper
NM_002344.6
p.R247W
c.739C>T
1 paper
NM_002344.6
p.R258H
c.773G>A
1 paper
NM_002344.6
p.R245Q
c.734G>A
1 paper
NM_002344.6
p.S259L
c.776C>T
4 papers
NM_002344.6
p.R243Q
c.728G>A
1 paper
NM_002344.6
p.A261A
c.783G>T
1 paper
NM_002344.6
p.R243W
c.727C>T
4 papers
NM_002344.6
p.S264C
c.790A>T
2 papers
NM_002344.6
p.L240V
c.718C>G
1 paper
NM_002344.6
p.G265R
c.793G>C
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