Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD1
Variant:p.E528D

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.E528D
c.1584G>C
Surrounding Variants
1 paper
NM_014907.3
p.E528D
c.1584G>T
1 paper
NM_014907.3
p.E557K
c.1669G>A
3 papers
NM_014907.3
p.G572D
c.1715G>A
1 paper
NM_014907.3
p.A578delFs
c.1732delG
1 paper
NM_014907.3
p.G577R
c.1729G>A
1 paper
NM_014907.3
p.G577R
c.1729G>C
1 paper
NM_014907.3
p.S592A
c.1774T>G
1 paper
NM_014907.3
p.S592L
c.1775C>T
1 paper
NM_014907.3
p.A593T
c.1777G>A
1 paper
NM_014907.3
p.A593G
c.1778C>G
1 paper
NM_014907.3
p.G599S
c.1795G>A
1 paper
NM_014907.3
p.D610A
c.1829A>C
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