Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.K238_D239Splc

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.K238_D239Splc
c.714+1307A>T
Surrounding Variants
1 paper
NM_001267046.2
p.K238_D239Splc
c.714+1G>A
1 paper
NM_001267046.2
p.K238_D239insG
c.712_716ins3
1 paper
NM_001267046.2
p.K238_D239insGG
c.712_716ins6
1 paper
NM_001267046.2
p.L236ins2
c.707_708ins6
1 paper
NM_001267046.2
p.L236L
c.706T>C
1 paper
NM_001267046.2
p.Y234ins1
c.701_702insCGG
1 paper
NM_001267046.2
p.Y234_R235delFs
c.702_703delCA
1 paper
NM_001267046.2
p.Y234_Y237del0
c.702_710del9
1 paper
NM_001267046.2
p.H232_Y234del0
c.696_701del6
1 paper
NM_001267046.2
p.A230_Y234del0
c.690_701del12
1 paper
NM_001267046.2
p.V229V
c.687C>A
1 paper
NM_001267046.2
p.V229D
c.686T>A
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