Varaico: Literature-Extracted Genetic Variants

Gene:FRMD1
Variant:p.E78G

FRMD1

61 papers

Pfam Domains

FERM_Naa 58–120UCSCFERM N-terminal domain
FERM_Maa 60–176UCSCFERM central domain
FERM_Caa 182–274UCSCFERM C-terminal PH-like domain

Gene Aliases

HGNC Name

FERM domain containing 1

HGNC Alias Symbols

FLJ00181; DKFZp434O0117; FLJ40260; FLJ22615; bA164L23.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024919.6
p.E78G
c.233A>G
Surrounding Variants
1 paper
NM_024919.6
p.E78*
c.232G>T
1 paper
NM_024919.6
p.R77R
c.231C>G
1 paper
NM_024919.6
p.V83L
c.247G>T
1 paper
NM_024919.6
p.V83L
c.247G>C
1 paper
NM_024919.6
p.F95L
c.283T>C
1 paper
NM_024919.6
p.C98Y
c.293G>A
1 paper
NM_024919.6
p.V100L
c.298G>C
1 paper
NM_024919.6
p.G71G
c.213G>A
1 paper
NM_024919.6
p.R63W
c.187C>T
1 paper
NM_024919.6
p.L57L
c.171C>T
1 paper
NM_024919.6
p.L57F
c.169C>T
1 paper
NM_024919.6
p.S51W
c.152C>G
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