Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.E41_F43del3

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.E41_F43del3
c.121_128del9
Surrounding Variants
1 paper
NM_194277.3
p.L45_E46insFs
c.135_136insC
1 paper
NM_194277.3
p.Y42*
c.126T>G
1 paper
NM_194277.3
p.Y42*
c.126T>A
1 paper
NM_194277.3
p.F47L
c.139T>C
1 paper
NM_194277.3
p.F47L
c.141C>G
1 paper
NM_194277.3
p.F47L
c.141C>A
1 paper
NM_194277.3
p.E39K
c.115G>A
1 paper
NM_194277.3
p.L35_N36Fs
c.103_108delinsTCFs
2 papers
NM_194277.3
p.G52*
c.154G>T
1 paper
NM_194277.3
p.N53D
c.157A>G
1 paper
NM_194277.3
p.H34_L35insFs
c.102_103ins4
1 paper
NM_194277.3
p.N53N
c.159T>C
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