Varaico: Literature-Extracted Genetic Variants

Gene:FLT3
Variant:p.E716Q

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.E716Q
c.2146G>C
Surrounding Variants
1 paper
NM_004119.3
p.E716K
c.2146G>A
1 paper
NM_004119.3
p.E716D
c.2148G>T
1 paper
NM_004119.3
p.E716D
c.2148G>C
1 paper
NM_004119.3
p.T715A
c.2143A>G
1 paper
NM_004119.3
p.I717N
c.2150T>A
1 paper
NM_004119.3
p.E720K
c.2158G>A
2 papers
NM_004119.3
p.R712W
c.2134A>T
1 paper
NM_004119.3
p.H711R
c.2132A>G
1 paper
NM_004119.3
p.H721Y
c.2161C>T
1 paper
NM_004119.3
p.F710S
c.2129T>C
1 paper
NM_004119.3
p.K709_F710delFs
c.2127_2128delAT
2 papers
NM_004119.3
p.K709T
c.2126A>C
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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."