Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.L292P

FRMD7

169 papers

Pfam Domains

FERM_Naa 6–69UCSCFERM N-terminal domain
FERM_Maa 84–192UCSCFERM central domain
FERM_Caa 196–286UCSCFERM C-terminal PH-like domain
FAaa 291–334UCSCFERM adjacent (FA)

Gene Aliases

HGNC Name

FERM domain containing 7

HGNC Previous Symbols

NYS; NYS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
18 papers
NM_194277.3
p.L292P
c.875T>C
Surrounding Variants
1 paper
NM_194277.3
p.T290_L292delFs
c.868_874del7
1 paper
NM_194277.3
p.L291L
c.873A>G
2 papers
NM_194277.3
p.C293fs
c.877_878fs
1 paper
NM_194277.3
p.T290T
c.870C>T
1 paper
NM_194277.3
p.T290T
c.870C>G
1 paper
NM_194277.3
p.S294fs
c.880_881fs
7 papers
NM_194277.3
p.S294insFs
c.880_881insA
1 paper
NM_194277.3
p.T290delFs
c.868delT
2 papers
NM_194277.3
p.T290fs
c.868_869fs
1 paper
NM_194277.3
p.G296fs
c.886_887fs
5 papers
NM_194277.3
p.G296C
c.886G>T
17 papers
NM_194277.3
p.G296R
c.886G>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."