Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.S302Splc

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.S302Splc
c.905+9A>G
Surrounding Variants
1 paper
NM_194277.3
p.S302Splc
c.905+9A>C
1 paper
NM_194277.3
p.S302Splc
c.905+12A>G
1 paper
NM_194277.3
p.S302Splc
c.905+15C>T
1 paper
NM_194277.3
p.S302Splc
c.905+18A>G
1 paper
NM_194277.3
p.S302Splc
c.905+19T>C
1 paper
NM_194277.3
p.Y301Y
c.903T>C
11 papers
NM_194277.3
p.Y301C
c.902A>G
3 papers
NM_194277.3
p.Y301H
c.901T>C
1 paper
NM_194277.3
p.R300H
c.899G>A
1 paper
NM_194277.3
p.R300delFs
c.898delG
1 paper
NM_194277.3
p.R300C
c.898C>T
1 paper
NM_194277.3
p.R300fs
c.898_899fs
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