Varaico: Literature-Extracted Genetic Variants

Gene:FRS2
Variant:p.Q486H

FRS2

101 papers

Pfam Domains

IRSaa 24–109UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

fibroblast growth factor receptor substrate 2

HGNC Alias Symbols

SNT-1; FRS2alpha; SNT1; FRS2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278356.2
p.Q486H
c.1458G>T
Surrounding Variants
1 paper
NM_001278356.2
p.Q486H
c.1458G>C
1 paper
NM_001278356.2
p.L485*
c.1454T>A
1 paper
NM_001278356.2
p.T479fs
c.1435_1436fs
1 paper
NM_001278356.2
p.G494G
c.1482T>G
1 paper
NM_001278356.2
p.E477fs
c.1429_1430fs
1 paper
NM_001278356.2
p.I476_E477insFs
c.1428_1429ins5
1 paper
NM_001278356.2
p.E477_R478insFs
c.1429_1433dup5
1 paper
NM_001278356.2
p.Y471H
c.1411T>C
1 paper
NM_001278356.2
p.D505delFs
c.1514delA
1 paper
NM_001278356.2
p.D505fs
c.1513_1514fs
1 paper
NM_001278356.2
p.R466R
c.1396A>C
1 paper
NM_001278356.2
p.L460H
c.1379T>A
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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."