Varaico: Literature-Extracted Genetic Variants

Gene:FCHO2
Variant:p.E743*

FCHO2

39 papers

Pfam Domains

GMIP-like_FCHaa 15–262UCSCGEM-interacting protein-like, FCH domain
muHDaa 543–809UCSCMuniscin C-terminal mu homology domain

Gene Aliases

HGNC Name

FCH and mu domain containing endocytic adaptor 2

HGNC Previous Name

FCH domain only 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138782.3
p.E743*
c.2227G>T
Surrounding Variants
1 paper
NM_138782.3
p.M732L
c.2194A>C
1 paper
NM_138782.3
p.M732L
c.2194A>T
1 paper
NM_138782.3
p.L722F
c.2164C>T
1 paper
NM_138782.3
p.P700S
c.2098C>T
1 paper
NM_138782.3
p.Q667_S668del2
c.1999_2003del6
1 paper
NM_138782.3
p.D627D
c.1881T>C
1 paper
NM_138782.3
p.T625I
c.1874C>T
1 paper
NM_138782.3
p.S619L
c.1856C>T
1 paper
NM_138782.3
p.S752_L753ins1
c.2256_2257insGAA
1 paper
NM_138782.3
p.P766_T767del2
c.2296_2300del6
1 paper
NM_138782.3
p.E776*
c.2326G>T
1 paper
NM_138782.3
p.F785_E786ins1
c.2355_2356insGAA
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