Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.S286fs

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.S286fs
c.856_857fs
Surrounding Variants
1 paper
NM_194277.3
p.S286delFs
c.856delA
1 paper
NM_194277.3
p.P284P
c.852C>T
1 paper
NM_194277.3
p.P288T
c.862C>A
1 paper
NM_194277.3
p.E283delFs
c.849delC
2 papers
NM_194277.3
p.E283D
c.849G>T
3 papers
NM_194277.3
p.E283D
c.849G>C
1 paper
NM_194277.3
p.E283E
c.849G>A
2 papers
NM_194277.3
p.T290fs
c.868_869fs
1 paper
NM_194277.3
p.S281S
c.843G>A
1 paper
NM_194277.3
p.T290delFs
c.868delT
3 papers
NM_194277.3
p.S281L
c.842C>T
1 paper
NM_194277.3
p.T290T
c.870C>T
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