Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.R229C

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
14 papers
NM_194277.3
p.R229C
c.685C>T
Surrounding Variants
11 papers
NM_194277.3
p.R229G
c.685C>G
2 papers
NM_194277.3
p.R229L
c.686G>T
1 paper
NM_194277.3
p.R229H
c.686G>A
1 paper
NM_194277.3
p.K230fs
c.688_689fs
1 paper
NM_194277.3
p.K230R
c.689A>G
1 paper
NM_194277.3
p.K230K
c.690G>A
12 papers
NM_194277.3
p.L231V
c.691T>G
1 paper
NM_194277.3
p.L231M
c.691T>A
3 papers
NM_194277.3
p.K230delFs
c.689_690delCT
3 papers
NM_194277.3
p.S232fs
c.694_695fs
12 papers
NM_194277.3
p.A226T
c.676G>A
1 paper
NM_194277.3
p.N224_W225del0
c.670_675del6
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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."