Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD1

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
1–12 of 136 variants
3 papers
NM_014907.3
p.T6P
c.16A>C
3 papers
NM_014907.3
p.A309T
c.925G>A
3 papers
NM_014907.3
p.G572D
c.1715G>A
3 papers
NM_014907.3
p.V1221I
c.3661G>A
2 papers
NM_014907.3
p.R133C
c.397C>T
2 papers
NM_014907.3
p.E440V
c.1319A>T
2 papers
NM_014907.3
p.L473P
c.1418T>C
2 papers
NM_014907.3
p.P734L
c.2201C>T
2 papers
NM_014907.3
p.Y846D
c.2536T>G
1 paper
NM_014907.3
p.E5_T6insG
c.13_17ins3
1 paper
NM_014907.3
p.F9L
c.25T>C
1 paper
NM_014907.3
p.F9L
c.27C>A
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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."