Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.N29N

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.N29N
c.87C>T
Surrounding Variants
1 paper
NM_194277.3
p.L30L
c.88C>T
1 paper
NM_194277.3
p.S23_F28delFs
c.67_83del17
1 paper
NM_194277.3
p.L30L
c.90G>C
1 paper
NM_194277.3
p.S31G
c.91A>G
1 paper
NM_194277.3
p.S31T
c.92G>C
1 paper
NM_194277.3
p.C32Y
c.95G>A
1 paper
NM_194277.3
p.S33I
c.98G>T
1 paper
NM_194277.3
p.S33N
c.98G>A
1 paper
NM_194277.3
p.K25E
c.73A>G
1 paper
NM_194277.3
p.G24V
c.71G>T
13 papers
NM_194277.3
p.G24E
c.71G>A
1 paper
NM_194277.3
p.L35fs
c.103_104fs
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