Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD1
Variant:p.S956C

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.S956C
c.2867C>G
Surrounding Variants
1 paper
NM_014907.3
p.I948N
c.2843T>A
1 paper
NM_014907.3
p.R947R
c.2841G>A
1 paper
NM_014907.3
p.D997V
c.2990A>T
1 paper
NM_014907.3
p.G895D
c.2684G>A
1 paper
NM_014907.3
p.A1025T
c.3073G>A
1 paper
NM_014907.3
p.S886P
c.2656T>C
1 paper
NM_014907.3
p.G1039R
c.3115G>A
1 paper
NM_014907.3
p.G1039R
c.3115G>C
1 paper
NM_014907.3
p.P873T
c.2617C>A
1 paper
NM_014907.3
p.L1044I
c.3130C>A
1 paper
NM_014907.3
p.E1057*
c.3169G>T
1 paper
NM_014907.3
p.H1063Y
c.3187C>T
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