Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.R235S

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.R235S
c.705A>C
Surrounding Variants
1 paper
NM_194277.3
p.R235S
c.705A>T
1 paper
NM_194277.3
p.R235I
c.704G>T
2 papers
NM_194277.3
p.K236fs
c.706_707fs
1 paper
NM_194277.3
p.K236K
c.708G>A
2 papers
NM_194277.3
p.K236delFs
c.706_707delTT
5 papers
NM_194277.3
p.S232del1
c.694_695delACT
2 papers
NM_194277.3
p.S232fs
c.694_695fs
3 papers
NM_194277.3
p.S232delFs
c.694_695delCT
3 papers
NM_194277.3
p.S232fs
c.694_695fs
1 paper
NM_194277.3
p.I240V
c.718A>G
12 papers
NM_194277.3
p.L231V
c.691T>G
5 papers
NM_194277.3
p.I240T
c.719T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."