Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.L136L

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.L136L
c.406C>T
Surrounding Variants
1 paper
NM_001267046.2
p.H135Q
c.405C>G
1 paper
NM_001267046.2
p.Y133_W134delFs
c.399_402del4
1 paper
NM_001267046.2
p.V140_L141insTGC
c.418_422ins9
1 paper
NM_001267046.2
p.Y132H
c.394T>C
1 paper
NM_001267046.2
p.S143F
c.428C>T
1 paper
NM_001267046.2
p.R126I
c.377G>T
1 paper
NM_001267046.2
p.D125E
c.375C>A
1 paper
NM_001267046.2
p.D125E
c.375C>G
1 paper
NM_001267046.2
p.R148insFs
c.442dupC
1 paper
NM_001267046.2
p.A151P
c.451G>C
1 paper
NM_001267046.2
p.Y152delFs
c.454delT
1 paper
NM_001267046.2
p.Y152insFs
c.455dupA
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