Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD1
Variant:p.D255N

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.D255N
c.763G>A
Surrounding Variants
1 paper
NM_014907.3
p.R257H
c.770G>A
1 paper
NM_014907.3
p.I244L
c.730A>C
1 paper
NM_014907.3
p.E240K
c.718G>A
1 paper
NM_014907.3
p.A225V
c.674C>T
1 paper
NM_014907.3
p.S218N
c.653G>A
1 paper
NM_014907.3
p.R217*
c.649C>T
1 paper
NM_014907.3
p.L208delins
c.623_624delinsAA
3 papers
NM_014907.3
p.A309T
c.925G>A
1 paper
NM_014907.3
p.K329_Y330delFs
c.985_989del5
1 paper
NM_014907.3
p.W335R
c.1003T>A
1 paper
NM_014907.3
p.W335R
c.1003T>C
1 paper
NM_014907.3
p.P343L
c.1028C>T
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