Varaico: Literature-Extracted Genetic Variants

Gene:FARP2
Variant:p.L674fs

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.L674fs
c.2020_2021fs
Surrounding Variants
3 papers
NM_014808.4
p.L674delFs
c.2021_2022delTC
1 paper
NM_014808.4
p.C670Y
c.2009G>A
1 paper
NM_014808.4
p.R689C
c.2065C>T
1 paper
NM_014808.4
p.L692delFs
c.2076delG
1 paper
NM_014808.4
p.P701L
c.2102C>T
2 papers
NM_014808.4
p.V643I
c.1927G>A
1 paper
NM_014808.4
p.E642K
c.1924G>A
1 paper
NM_014808.4
p.M627I
c.1881G>A
1 paper
NM_014808.4
p.M627I
c.1881G>C
1 paper
NM_014808.4
p.M627I
c.1881G>T
1 paper
NM_014808.4
p.S615N
c.1844G>A
1 paper
NM_014808.4
p.W604Splc
c.1812-1G>A
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