Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.M1L

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.M1L
c.1A>C
Surrounding Variants
1 paper
NM_001267046.2
p.M1L
c.1A>T
1 paper
NM_001267046.2
p.M1_F6del0
c.1_18del18
1 paper
NM_001267046.2
p.M1T
c.2T>C
1 paper
NM_001267046.2
p.M1_N2ins2
c.3_4ins6
1 paper
NM_001267046.2
p.N2K
c.6C>A
1 paper
NM_001267046.2
p.K3_L4ins6
c.7_11ins18
1 paper
NM_001267046.2
p.L4L
c.12G>A
1 paper
NM_001267046.2
p.L4F
c.12G>C
1 paper
NM_001267046.2
p.N9_R10ins4
c.25_29ins12
1 paper
NM_001267046.2
p.N9S
c.26A>G
2 papers
NM_001267046.2
p.V11_M12insFs
c.33_34insC
1 paper
NM_001267046.2
p.V11delFs
c.33delC
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