Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.N54_V55Splc

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.N54_V55Splc
c.162+25C>A
Surrounding Variants
1 paper
NM_194277.3
p.N54_V55Splc
c.162+26T>G
1 paper
NM_194277.3
p.N54_V55Splc
c.162+27T>C
1 paper
NM_194277.3
p.N54_V55Splc
c.162+30T>G
1 paper
NM_194277.3
p.N54_V55Splc
c.162+18T>C
2 papers
NM_194277.3
p.N54_V55Splc
c.162+6T>C
6 papers
NM_194277.3
p.N54_V55Splc
c.162+5G>A
6 papers
NM_194277.3
p.N54_V55Splc
c.162+2T>C
1 paper
NM_194277.3
p.N54T
c.161A>C
1 paper
NM_194277.3
p.N54_V55Splc
c.162+52C>A
1 paper
NM_194277.3
p.N53N
c.159T>C
1 paper
NM_194277.3
p.N53D
c.157A>G
2 papers
NM_194277.3
p.G52*
c.154G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."