Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD1
Variant:p.L473P

FRMPD1

109 papers

Pfam Domains

PDZaa 57–132UCSCPDZ domain
FERM_Maa 269–401UCSCFERM central domain

Gene Aliases

HGNC Name

FERM and PDZ domain containing 1

HGNC Alias Symbols

KIAA0967; FRMD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014907.3
p.L473P
c.1418T>C
Surrounding Variants
1 paper
NM_014907.3
p.L492V
c.1474T>G
1 paper
NM_014907.3
p.L492_V493insC
c.1474_1478ins3
1 paper
NM_014907.3
p.A509V
c.1526C>T
1 paper
NM_014907.3
p.R511W
c.1531C>T
1 paper
NM_014907.3
p.V459I
c.1375G>A
2 papers
NM_014907.3
p.E440V
c.1319A>T
1 paper
NM_014907.3
p.V418F
c.1252G>T
1 paper
NM_014907.3
p.Q408*
c.1222C>T
1 paper
NM_014907.3
p.E528D
c.1584G>C
1 paper
NM_014907.3
p.E528D
c.1584G>T
1 paper
NM_014907.3
p.E557K
c.1669G>A
3 papers
NM_014907.3
p.G572D
c.1715G>A
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