Varaico: Literature-Extracted Genetic Variants

Gene:FLT3
Variant:p.D469E

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.D469E
c.1407C>A
Surrounding Variants
1 paper
NM_004119.3
p.D469E
c.1407C>G
1 paper
NM_004119.3
p.D469fs
c.1405_1406fs
1 paper
NM_004119.3
p.D469N
c.1405G>A
1 paper
NM_004119.3
p.S468delFs
c.1404delT
1 paper
NM_004119.3
p.K470R
c.1409A>G
1 paper
NM_004119.3
p.S468L
c.1403C>T
1 paper
NM_004119.3
p.S468*
c.1403C>G
1 paper
NM_004119.3
p.S468*
c.1403C>A
2 papers
NM_004119.3
p.S471C
c.1412C>G
1 paper
NM_004119.3
p.P472S
c.1414C>T
1 paper
NM_004119.3
p.N473Y
c.1417A>T
1 paper
NM_004119.3
p.K465M
c.1394A>T
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