Varaico: Literature-Extracted Genetic Variants

Gene:FRMD5
Variant:p.Q142Q

FRMD5

44 papers

Pfam Domains

FERM_Caa 5–68UCSCFERM C-terminal PH-like domain
FERM_Naa 21–84UCSCFERM N-terminal domain
FERM_Maa 99–210UCSCFERM central domain
FERM_Caa 214–302UCSCFERM C-terminal PH-like domain
FAaa 309–352UCSCFERM adjacent (FA)

Gene Aliases

HGNC Name

FERM domain containing 5

HGNC Alias Symbol

MGC14161

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032892.5
p.Q142Q
c.426A>G
Surrounding Variants
3 papers
NM_032892.5
p.F114L
c.342C>G
3 papers
NM_032892.5
p.F114L
c.342C>A
4 papers
NM_032892.5
p.F114L
c.340T>C
1 paper
NM_032892.5
p.A143Splc
c.428-2A>G
1 paper
NM_032892.5
p.A143V
c.428C>T
1 paper
NM_032892.5
p.P165S
c.493C>T
1 paper
NM_032892.5
p.H167L
c.500A>T
1 paper
NM_032892.5
p.E172K
c.514G>A
1 paper
NM_032892.5
p.R173M
c.518G>T
1 paper
NM_032892.5
p.E182insFs
c.544_545ins5
1 paper
NM_032892.5
p.E182insFs
c.545dupA
1 paper
NM_032892.5
p.G185C
c.553G>T
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