Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD1
Variant:p.R729Q

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
1 paper
NM_014907.3
p.R729Q
c.2186G>A
Surrounding Variants
1 paper
NM_014907.3
p.S728S
c.2184C>T
1 paper
NM_014907.3
p.Q730*
c.2188C>T
1 paper
NM_014907.3
p.G732R
c.2194G>A
1 paper
NM_014907.3
p.G732R
c.2194G>C
2 papers
NM_014907.3
p.P734L
c.2201C>T
1 paper
NM_014907.3
p.Q740*
c.2218C>T
1 paper
NM_014907.3
p.E744D
c.2232G>C
1 paper
NM_014907.3
p.E744D
c.2232G>T
1 paper
NM_014907.3
p.L756M
c.2266C>A
1 paper
NM_014907.3
p.S690N
c.2069G>A
1 paper
NM_014907.3
p.E770*
c.2308G>T
1 paper
NM_014907.3
p.W685S
c.2054G>C
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