Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.F167insFs

FRMD6

164 papers

Pfam Domains

FERM_Naa 20–82UCSCFERM N-terminal domain
FERM_Naa 20–82UCSCFERM N-terminal domain
FERM_Maa 118–234UCSCFERM central domain
FERM_Maa 118–234UCSCFERM central domain
FERM_Caa 239–332UCSCFERM C-terminal PH-like domain

Gene Aliases

HGNC Name

FERM domain containing 6

HGNC Previous Symbol

C14orf31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001267046.2
p.F167insFs
c.500_501insA
Surrounding Variants
1 paper
NM_001267046.2
p.F167_K168insFs
c.501_502insA
1 paper
NM_001267046.2
p.K168E
c.502A>G
1 paper
NM_001267046.2
p.N166K
c.498C>G
3 papers
NM_001267046.2
p.G165A
c.494G>C
1 paper
NM_001267046.2
p.G165R
c.493G>A
1 paper
NM_001267046.2
p.G165R
c.493G>C
1 paper
NM_001267046.2
p.K171E
c.511A>G
1 paper
NM_001267046.2
p.F158S
c.473T>C
1 paper
NM_001267046.2
p.F158ins1
c.472_473insGGG
1 paper
NM_001267046.2
p.A157_A162insFs
c.469_484dup16
1 paper
NM_001267046.2
p.E178insFs
c.532_533insC
1 paper
NM_001267046.2
p.E178_P179insTAG
c.532_536ins9
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