Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.L142R

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.L142R
c.425T>G
Surrounding Variants
1 paper
NM_194277.3
p.H141H
c.423T>C
1 paper
NM_194277.3
p.K140K
c.420G>A
10 papers
NM_194277.3
p.R146W
c.436C>T
1 paper
NM_194277.3
p.R146L
c.437G>T
1 paper
NM_194277.3
p.D138H
c.412G>C
1 paper
NM_194277.3
p.Y147Y
c.441C>T
1 paper
NM_194277.3
p.E136E
c.408A>G
1 paper
NM_194277.3
p.L148*
c.443T>G
2 papers
NM_194277.3
p.L148*
c.443T>A
1 paper
NM_194277.3
p.L148delFs
c.444delT
1 paper
NM_194277.3
p.E135_E136insC
c.403_407ins3
1 paper
NM_194277.3
p.E135K
c.403G>A
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