Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.L76F

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
2 papers
NM_001267046.2
p.L76F
c.226C>T
Surrounding Variants
1 paper
NM_001267046.2
p.Q74R
c.221A>G
1 paper
NM_001267046.2
p.S73_Q74insFs
c.219_220insC
1 paper
NM_001267046.2
p.K78R
c.233A>G
1 paper
NM_001267046.2
p.S73A
c.217T>G
1 paper
NM_001267046.2
p.C80insFs
c.238_239insG
1 paper
NM_001267046.2
p.C80insFs
c.238_239insGG
1 paper
NM_001267046.2
p.E71A
c.212A>C
1 paper
NM_001267046.2
p.E71G
c.212A>G
3 papers
NM_001267046.2
p.E71insFs
c.211_212insT
1 paper
NM_001267046.2
p.P81_K82ins1
c.243_244insAGC
1 paper
NM_001267046.2
p.H67H
c.201T>C
1 paper
NM_001267046.2
p.H67Y
c.199C>T
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