Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.R325Splc

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.R325Splc
c.975-31T>C
Surrounding Variants
1 paper
NM_194277.3
p.R325Splc
c.975-30T>G
1 paper
NM_194277.3
p.R325Splc
c.975-32A>G
1 paper
NM_194277.3
p.R325Splc
c.975-29T>G
1 paper
NM_194277.3
p.R325Splc
c.975-23A>T
1 paper
NM_194277.3
p.R325Splc
c.975-42C>G
1 paper
NM_194277.3
p.R325Splc
c.975-47A>G
1 paper
NM_194277.3
p.R325Splc
c.975-49G>A
6 papers
NM_194277.3
p.R325G
c.973A>G
2 papers
NM_194277.3
p.R325M
c.974G>T
1 paper
NM_194277.3
p.R325K
c.974G>A
2 papers
NM_194277.3
p.H327fs
c.979_980fs
1 paper
NM_194277.3
p.R325Splc
c.974+51G>A
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