Varaico: Literature-Extracted Genetic Variants

Gene:FARP2
Variant:p.D294N

FARP2

113 papers

Pfam Domains

FERM_Naa 48–111UCSCFERM N-terminal domain
FERM_Maa 126–234UCSCFERM central domain
FERM_Caa 238–328UCSCFERM C-terminal PH-like domain
FAaa 333–376UCSCFERM adjacent (FA)
RhoGEFaa 539–724UCSCRhoGEF domain
PHaa 756–852UCSCPH domain

Gene Aliases

HGNC Name

FERM, ARH/RhoGEF and pleckstrin domain protein 2

HGNC Alias Symbols

KIAA0793; FIR; PLEKHC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014808.4
p.D294N
c.880G>A
Surrounding Variants
1 paper
NM_014808.4
p.D294E
c.882C>A
1 paper
NM_014808.4
p.D294E
c.882C>G
1 paper
NM_014808.4
p.E297_F298insFs
c.891_892insT
1 paper
NM_014808.4
p.V314M
c.940G>A
1 paper
NM_014808.4
p.Y316*
c.948T>A
1 paper
NM_014808.4
p.Y316*
c.948T>G
1 paper
NM_014808.4
p.L322V
c.964C>G
1 paper
NM_014808.4
p.F334F
c.1002C>T
1 paper
NM_014808.4
p.S340A
c.1018T>G
1 paper
NM_014808.4
p.G345V
c.1034G>T
1 paper
NM_014808.4
p.Q348_K349delFs
c.1044_1045delGA
1 paper
NM_014808.4
p.K276R
c.827A>G
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