Varaico: Literature-Extracted Genetic Variants

Gene:FARP2
Variant:p.Q965_D966Splc

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
2 papers
NM_014808.4
p.Q965_D966Splc
c.2896-4G>C
Surrounding Variants
1 paper
NM_014808.4
p.D966_D967insFs
c.2898_2899insG
1 paper
NM_014808.4
p.P974Q
c.2921C>A
1 paper
NM_014808.4
p.S979S
c.2937C>T
1 paper
NM_014808.4
p.D987N
c.2959G>A
1 paper
NM_014808.4
p.G988D
c.2963G>A
1 paper
NM_014808.4
p.K991delFs
c.2971_2972delAA
1 paper
NM_014808.4
p.R1007W
c.3019C>T
1 paper
NM_014808.4
p.E1009D
c.3027G>C
1 paper
NM_014808.4
p.E1009D
c.3027G>T
1 paper
NM_014808.4
p.K1011*
c.3031A>T
1 paper
NM_014808.4
p.L958_F959insFs
c.2874_2875ins4
1 paper
NM_014808.4
p.Q1022fs
c.3064_3065fs
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