Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.L309P

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
1 paper
NM_194277.3
p.L309P
c.926T>C
Surrounding Variants
1 paper
NM_194277.3
p.Q308R
c.923A>G
2 papers
NM_194277.3
p.Q308K
c.922C>A
6 papers
NM_194277.3
p.Q306R
c.917A>G
1 paper
NM_194277.3
p.Y312C
c.935A>G
1 paper
NM_194277.3
p.Y312Y
c.936T>C
1 paper
NM_194277.3
p.Y312delFs
c.935delT
1 paper
NM_194277.3
p.G313R
c.937G>C
1 paper
NM_194277.3
p.G313R
c.937G>A
1 paper
NM_194277.3
p.G313G
c.939G>A
1 paper
NM_194277.3
p.R304Q
c.911G>A
14 papers
NM_194277.3
p.R304*
c.910C>T
1 paper
NM_194277.3
p.K315E
c.943A>G
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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."