Varaico: Literature-Extracted Genetic Variants

Gene:FARP2

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
1–12 of 132 variants
5 papers
NM_014808.4
p.T260I
c.779C>T
3 papers
NM_014808.4
p.E392K
c.1174G>A
3 papers
NM_014808.4
p.V556I
c.1666G>A
3 papers
NM_014808.4
p.L674delFs
c.2021_2022delTC
3 papers
NM_014808.4
p.S896F
c.2687C>T
2 papers
NM_014808.4
p.Q21*
c.61C>T
2 papers
NM_014808.4
p.H45Y
c.133C>T
2 papers
NM_014808.4
p.H45R
c.134A>G
2 papers
NM_014808.4
p.Q93*
c.277C>T
2 papers
NM_014808.4
p.S408L
c.1223C>T
2 papers
NM_014808.4
p.V643I
c.1927G>A
2 papers
NM_014808.4
p.H819_C820delFs
c.2457_2458delCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."