Varaico: Literature-Extracted Genetic Variants

Gene:FLT3
Variant:p.Q580R

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.Q580R
c.1739A>G
Surrounding Variants
7 papers
NM_004119.3
p.Q580P
c.1739A>C
1 paper
NM_004119.3
p.Q580_V581insFs
c.1740_1741ins7
1 paper
NM_004119.3
p.Q580fs
c.1738_1739fs
1 paper
NM_004119.3
p.Q580_V581ins16
c.1740_1741ins48
1 paper
NM_004119.3
p.L576_Q580del0
c.1728_1739del12
1 paper
NM_004119.3
p.Q580E
c.1738C>G
1 paper
NM_004119.3
p.V579_Q580ins1
c.1737_1738insAGG
1 paper
NM_004119.3
p.Q577_Q580delins
c.1730_1738delinsGGCTCTCCG
2 papers
NM_004119.3
p.V581L
c.1741G>T
1 paper
NM_004119.3
p.V581ins1
c.1741_1742insATT
1 paper
NM_004119.3
p.V581ins13
c.1741_1742ins39
2 papers
NM_004119.3
p.V581L
c.1741G>C
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