Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.L321F

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.L321F
c.963G>T
Surrounding Variants
1 paper
NM_194277.3
p.L321F
c.963G>C
3 papers
NM_194277.3
p.P322S
c.964C>T
1 paper
NM_194277.3
p.F323L
c.967T>C
1 paper
NM_194277.3
p.F323L
c.969T>G
1 paper
NM_194277.3
p.F323L
c.969T>A
1 paper
NM_194277.3
p.L318L
c.954G>T
1 paper
NM_194277.3
p.L318Q
c.953T>A
6 papers
NM_194277.3
p.R325G
c.973A>G
1 paper
NM_194277.3
p.R325M
c.974G>T
1 paper
NM_194277.3
p.R325K
c.974G>A
1 paper
NM_194277.3
p.R325Splc
c.974+2T>C
1 paper
NM_194277.3
p.R317K
c.950G>A
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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."