Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.N221H

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
2 papers
NM_194277.3
p.N221H
c.661A>C
Surrounding Variants
4 papers
NM_194277.3
p.N221fs
c.661_662fs
14 papers
NM_194277.3
p.N221D
c.661A>G
5 papers
NM_194277.3
p.I220delFs
c.660delG
1 paper
NM_194277.3
p.N221T
c.662A>C
1 paper
NM_194277.3
p.N221N
c.663T>C
1 paper
NM_194277.3
p.I220T
c.659T>C
1 paper
NM_194277.3
p.N221delFs
c.663delA
3 papers
NM_194277.3
p.K219N
c.657G>T
3 papers
NM_194277.3
p.K219N
c.657G>C
1 paper
NM_194277.3
p.F223fs
c.667_668fs
1 paper
NM_194277.3
p.F223S
c.668T>C
1 paper
NM_194277.3
p.F223F
c.669T>C
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