Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.Y332D

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.Y332D
c.994T>G
Surrounding Variants
1 paper
NM_194277.3
p.Y332C
c.995A>G
1 paper
NM_194277.3
p.Q331R
c.992A>G
2 papers
NM_194277.3
p.H333fs
c.997_998fs
1 paper
NM_194277.3
p.S330S
c.990T>G
1 paper
NM_194277.3
p.S330S
c.990T>C
1 paper
NM_194277.3
p.H333L
c.998A>T
1 paper
NM_194277.3
p.H333R
c.998A>G
6 papers
NM_194277.3
p.H333fs
c.997_998fs
2 papers
NM_194277.3
p.H333insFs
c.998dupA
1 paper
NM_194277.3
p.P329delFs
c.987delT
1 paper
NM_194277.3
p.E334K
c.1000G>A
6 papers
NM_194277.3
p.H333delFs
c.999delA
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