Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.F223F

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.F223F
c.669T>C
Surrounding Variants
1 paper
NM_194277.3
p.F223S
c.668T>C
1 paper
NM_194277.3
p.N224D
c.670A>G
1 paper
NM_194277.3
p.F223fs
c.667_668fs
13 papers
NM_194277.3
p.W225G
c.673T>G
2 papers
NM_194277.3
p.W225R
c.673T>C
2 papers
NM_194277.3
p.W225R
c.673T>A
1 paper
NM_194277.3
p.F223_W225delFs
c.669_673del5
1 paper
NM_194277.3
p.N221delFs
c.663delA
1 paper
NM_194277.3
p.N221N
c.663T>C
12 papers
NM_194277.3
p.A226T
c.676G>A
1 paper
NM_194277.3
p.N224_W225del0
c.670_675del6
1 paper
NM_194277.3
p.N221T
c.662A>C
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