Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.K35K

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.K35K
c.105G>A
Surrounding Variants
1 paper
NM_001267046.2
p.H39_Q40insFs
c.117_118insCA
1 paper
NM_001267046.2
p.Q40_L41insFs
c.120_121insG
1 paper
NM_001267046.2
p.Q40R
c.119A>G
1 paper
NM_001267046.2
p.L42_V43insT
c.124_128ins3
1 paper
NM_001267046.2
p.V43D
c.128T>A
1 paper
NM_001267046.2
p.V45_C46insTGA
c.133_137ins9
1 paper
NM_001267046.2
p.D47A
c.140A>C
1 paper
NM_001267046.2
p.L48L
c.142C>T
1 paper
NM_001267046.2
p.R50K
c.149G>A
1 paper
NM_001267046.2
p.L51ins3
c.151_152ins9
3 papers
NM_001267046.2
p.C54insFs
c.161_162insT
1 paper
NM_001267046.2
p.H55Q
c.165C>A
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