Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.D19_Q20Splc

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.D19_Q20Splc
c.58-10T>C
Surrounding Variants
1 paper
NM_194277.3
p.D19_Q20Splc
c.58-6G>A
2 papers
NM_194277.3
p.D19_Q20Splc
c.58-3T>A
1 paper
NM_194277.3
p.D19_Q20Splc
c.58-2A>C
6 papers
NM_194277.3
p.D19_Q20Splc
c.58-1G>A
8 papers
NM_194277.3
p.Q20*
c.58C>T
1 paper
NM_194277.3
p.D19_Q20Splc
c.58-24C>G
1 paper
NM_194277.3
p.D19_Q20Splc
c.58-25G>C
1 paper
NM_194277.3
p.S22T
c.64T>A
1 paper
NM_194277.3
p.D19_Q20Splc
c.58-30A>G
3 papers
NM_194277.3
p.S23S
c.69C>T
11 papers
NM_194277.3
p.G24W
c.70G>T
18 papers
NM_194277.3
p.G24R
c.70G>C
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