Varaico: Literature-Extracted Genetic Variants

Gene:FRMD6
Variant:p.D206N

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.D206N
c.616G>A
Surrounding Variants
1 paper
NM_001267046.2
p.H204R
c.611A>G
1 paper
NM_001267046.2
p.H199Y
c.595C>T
2 papers
NM_001267046.2
p.E214K
c.640G>A
1 paper
NM_001267046.2
p.L217delFs
c.649delC
1 paper
NM_001267046.2
p.Y219_I220insC
c.655_659ins3
1 paper
NM_001267046.2
p.K190delFs
c.570delG
1 paper
NM_001267046.2
p.V229D
c.686T>A
1 paper
NM_001267046.2
p.V229V
c.687C>A
1 paper
NM_001267046.2
p.A230_Y234del0
c.690_701del12
1 paper
NM_001267046.2
p.H232_Y234del0
c.696_701del6
1 paper
NM_001267046.2
p.Y234_Y237del0
c.702_710del9
1 paper
NM_001267046.2
p.W186_V187Splc
c.559-27C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."