Varaico: Literature-Extracted Genetic Variants

Gene:FLT3
Variant:p.F830L

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.F830L
c.2488T>C
Surrounding Variants
1 paper
NM_004119.3
p.F830I
c.2488T>A
1 paper
NM_004119.3
p.F830L
c.2490T>G
1 paper
NM_004119.3
p.F830L
c.2490T>A
3 papers
NM_004119.3
p.G831R
c.2491G>C
3 papers
NM_004119.3
p.G831R
c.2491G>A
1 paper
NM_004119.3
p.C828*
c.2484T>A
22 papers
NM_004119.3
p.G831E
c.2492G>A
4 papers
NM_004119.3
p.C828S
c.2483G>C
2 papers
NM_004119.3
p.C828R
c.2482T>C
4 papers
NM_004119.3
p.C828S
c.2482T>A
1 paper
NM_004119.3
p.L832W
c.2495T>G
1 paper
NM_004119.3
p.L832F
c.2496G>T
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