Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD1
Variant:p.D1480E

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.D1480E
c.4440C>G
Surrounding Variants
1 paper
NM_014907.3
p.D1480E
c.4440C>A
1 paper
NM_014907.3
p.Q1481K
c.4441C>A
1 paper
NM_014907.3
p.R1491H
c.4472G>A
1 paper
NM_014907.3
p.T1493N
c.4478C>A
1 paper
NM_014907.3
p.G1502delFs
c.4506delC
1 paper
NM_014907.3
p.D1509H
c.4525G>C
1 paper
NM_014907.3
p.P1448Q
c.4343C>A
1 paper
NM_014907.3
p.H1446N
c.4336C>A
1 paper
NM_014907.3
p.E1519A
c.4556A>C
1 paper
NM_014907.3
p.R1556H
c.4667G>A
1 paper
NM_014907.3
p.S1394L
c.4181C>T
1 paper
NM_014907.3
p.A1372A
c.4116G>A
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