Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.G305R

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.G305R
c.913G>C
Surrounding Variants
1 paper
NM_001267046.2
p.G305R
c.913G>A
1 paper
NM_001267046.2
p.P307S
c.919C>T
1 paper
NM_001267046.2
p.Y303_T304del0
c.907_912del6
1 paper
NM_001267046.2
p.Y302_C306del5
c.904_917del15
1 paper
NM_001267046.2
p.K299M
c.896A>T
1 paper
NM_001267046.2
p.R311G
c.931A>G
1 paper
NM_001267046.2
p.K299_L300del2
c.895_899del6
1 paper
NM_001267046.2
p.S296S
c.888T>A
1 paper
NM_001267046.2
p.P295_S296insFs
c.885_886ins8
1 paper
NM_001267046.2
p.P295insFs
c.884_885ins8
1 paper
NM_001267046.2
p.S320_H321ins4
c.958_962ins12
1 paper
NM_001267046.2
p.K285T
c.854A>C
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