Varaico: Literature-Extracted Genetic Variants

Gene:FLT3
Variant:p.D593A

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.D593A
c.1778A>C
Surrounding Variants
1 paper
NM_004119.3
p.D593V
c.1778A>T
3 papers
NM_004119.3
p.D593G
c.1778A>G
1 paper
NM_004119.3
p.D593ins13
c.1778_1779ins39
1 paper
NM_004119.3
p.D593insFs
c.1778_1779ins16
1 paper
NM_004119.3
p.D593ins8
c.1778_1779ins24
1 paper
NM_004119.3
p.D593ins14
c.1778_1779ins42
1 paper
NM_004119.3
p.D593ins13
c.1778_1779ins39
1 paper
NM_004119.3
p.V592del1
c.1774_1775delAAC
1 paper
NM_004119.3
p.D593fs
c.1777_1778fs
1 paper
NM_004119.3
p.Q577_D593ins5
c.1731_1778dup48
1 paper
NM_004119.3
p.D593_F594ins6
c.1779_1780ins18
1 paper
NM_004119.3
p.D593Fs
c.1779delinsGGTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGAFs
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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."