Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD1
Variant:p.R55L

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.R55L
c.164G>T
Surrounding Variants
1 paper
NM_014907.3
p.P47R
c.140C>G
1 paper
NM_014907.3
p.A44T
c.130G>A
1 paper
NM_014907.3
p.G87E
c.260G>A
1 paper
NM_014907.3
p.N104S
c.311A>G
1 paper
NM_014907.3
p.D118N
c.352G>A
2 papers
NM_014907.3
p.R133C
c.397C>T
1 paper
NM_014907.3
p.R133H
c.398G>A
1 paper
NM_014907.3
p.R133P
c.398G>C
1 paper
NM_014907.3
p.S136_G137Splc
c.409-3500G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."