Varaico: Literature-Extracted Genetic Variants

Gene:FARP2
Variant:p.G452_P453insFs

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.G452_P453insFs
c.1356_1357ins7
Surrounding Variants
1 paper
NM_014808.4
p.L461L
c.1383C>T
1 paper
NM_014808.4
p.G469S
c.1405G>A
1 paper
NM_014808.4
p.S425N
c.1274G>A
1 paper
NM_014808.4
p.S417delFs
c.1249delT
2 papers
NM_014808.4
p.S408L
c.1223C>T
1 paper
NM_014808.4
p.P397S
c.1189C>T
3 papers
NM_014808.4
p.E392K
c.1174G>A
1 paper
NM_014808.4
p.S389A
c.1165T>G
1 paper
NM_014808.4
p.Q348_K349delFs
c.1044_1045delGA
1 paper
NM_014808.4
p.G345V
c.1034G>T
1 paper
NM_014808.4
p.S340A
c.1018T>G
1 paper
NM_014808.4
p.F334F
c.1002C>T
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