Varaico: Literature-Extracted Genetic Variants

Gene:FLT3
Variant:p.P439L

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
2 papers
NM_004119.3
p.P439L
c.1316C>T
Surrounding Variants
1 paper
NM_004119.3
p.Q440*
c.1318C>T
1 paper
NM_004119.3
p.K438I
c.1313A>T
1 paper
NM_004119.3
p.V441M
c.1321G>A
1 paper
NM_004119.3
p.V441A
c.1322T>C
1 paper
NM_004119.3
p.R437K
c.1310G>A
1 paper
NM_004119.3
p.R437Splc
c.1310-1G>T
1 paper
NM_004119.3
p.R437Splc
c.1310-1G>A
1 paper
NM_004119.3
p.L442F
c.1324C>T
21 papers
NM_004119.3
p.R437Splc
c.1310-3T>C
1 paper
NM_004119.3
p.L442P
c.1325T>C
2 papers
NM_004119.3
p.A443T
c.1327G>A
1 paper
NM_004119.3
p.A443V
c.1328C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."