Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.Y116_V117del1

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.Y116_V117del1
c.348_350delTGT
Surrounding Variants
1 paper
NM_001267046.2
p.V117_E118insCA
c.349_353ins6
1 paper
NM_001267046.2
p.Y115F
c.344A>T
1 paper
NM_001267046.2
p.R112H
c.335G>A
1 paper
NM_001267046.2
p.F111C
c.332T>G
1 paper
NM_001267046.2
p.M107I
c.321G>A
1 paper
NM_001267046.2
p.M107insFs
c.320_321ins4
3 papers
NM_001267046.2
p.P105_P106insFs
c.315_316insAC
1 paper
NM_001267046.2
p.D101N
c.301G>A
1 paper
NM_001267046.2
p.D101_Q102delFs
c.302_306del5
1 paper
NM_001267046.2
p.I100delFs
c.299_300delTC
1 paper
NM_001267046.2
p.W98_G99Splc
c.295-1G>A
1 paper
NM_001267046.2
p.S124Splc
c.371+577G>A
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