Varaico: Literature-Extracted Genetic Variants

Gene:FRMD5
Variant:p.T466I

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.T466I
c.1397C>T
Surrounding Variants
1 paper
NM_032892.5
p.E478insFs
c.1432_1433ins4
1 paper
NM_032892.5
p.T508I
c.1523C>T
1 paper
NM_032892.5
p.F513ins1
c.1537_1538insAAT
1 paper
NM_032892.5
p.F544_H545ins5
c.1630_1634ins15
5 papers
NM_032892.5
p.Y546C
c.1637A>G
1 paper
NM_032892.5
p.C558G
c.1672T>G
1 paper
NM_032892.5
p.R561C
c.1681C>T
1 paper
NM_032892.5
p.S375F
c.1124C>T
2 papers
NM_032892.5
p.I355T
c.1064T>C
1 paper
NM_032892.5
p.I355K
c.1064T>A
2 papers
NM_032892.5
p.S354P
c.1060T>C
5 papers
NM_032892.5
p.C352R
c.1054T>C
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