Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.K279_L280insTGG

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.K279_L280insTGG
c.835_839ins9
Surrounding Variants
1 paper
NM_001267046.2
p.V281L
c.841G>C
2 papers
NM_001267046.2
p.V281L
c.841G>T
1 paper
NM_001267046.2
p.P273P
c.819C>T
1 paper
NM_001267046.2
p.Q260_N261Splc
c.780+1G>T
1 paper
NM_001267046.2
p.L247_T248insFs
c.741_742insA
1 paper
NM_001267046.2
p.A245T
c.733G>A
1 paper
NM_001267046.2
p.I243_E244insAGC
c.727_731ins9
1 paper
NM_001267046.2
p.E242D
c.726A>C
1 paper
NM_001267046.2
p.E242D
c.726A>T
1 paper
NM_001267046.2
p.K238_D239Splc
c.715-1G>C
1 paper
NM_001267046.2
p.G284_K285delFs
c.851_854del4
1 paper
NM_001267046.2
p.K285T
c.854A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."