Varaico: Literature-Extracted Genetic Variants

Gene:FLT3
Variant:p.L221I

FLT3

2,401 papers

RefSeq Summary

This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, whic...

Pfam Domains

igaa 258–343UCSCImmunoglobulin domain
PK_Tyr_Ser-Thraa 610–943UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fms related receptor tyrosine kinase 3

HGNC Alias Symbols

FLK2; CD135

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004119.3
p.L221I
c.661C>A
Surrounding Variants
1 paper
NM_004119.3
p.L221insFs
c.661dupC
1 paper
NM_004119.3
p.V220fs
c.658_659fs
1 paper
NM_004119.3
p.V220G
c.659T>G
1 paper
NM_004119.3
p.L221L
c.663T>A
1 paper
NM_004119.3
p.K219delFs
c.657delT
1 paper
NM_004119.3
p.K215_H222insFs
c.644_665dup22
1 paper
NM_004119.3
p.K219R
c.656A>G
1 paper
NM_004119.3
p.E218D
c.654A>T
3 papers
NM_004119.3
p.E218G
c.653A>G
1 paper
NM_004119.3
p.E218_K219insC
c.652_656ins3
1 paper
NM_004119.3
p.E217V
c.650A>T
1 paper
NM_004119.3
p.E217ins3
c.650_651ins9
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