Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.P329P

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.P329P
c.987A>G
Surrounding Variants
1 paper
NM_194277.3
p.P329delFs
c.987delT
5 papers
NM_194277.3
p.P329Q
c.986C>A
1 paper
NM_194277.3
p.H327_P329delins
c.979_987delinsCCA
2 papers
NM_194277.3
p.H327_P329Fs
c.980_987delinsCCAAFs
1 paper
NM_194277.3
p.P329T
c.985C>A
1 paper
NM_194277.3
p.Y328del1
c.982_983delGTA
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.H327_Y328del1
c.981_983delTAA
4 papers
NM_194277.3
p.H327_Y328delFs
c.980_983del4
3 papers
NM_194277.3
p.Y328C
c.983A>G
1 paper
NM_194277.3
p.Q331R
c.992A>G
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