Varaico: Literature-Extracted Genetic Variants

Gene:FRMD1
Variant:p.E128_G129Splc

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
2 papers
NM_024919.6
p.E128_G129Splc
c.385-5A>G
Surrounding Variants
1 paper
NM_024919.6
p.G129E
c.386G>A
1 paper
NM_024919.6
p.E131K
c.391G>A
1 paper
NM_024919.6
p.F137L
c.409T>C
1 paper
NM_024919.6
p.R142Q
c.425G>A
1 paper
NM_024919.6
p.Q144delFs
c.430delG
1 paper
NM_024919.6
p.G150R
c.448G>C
1 paper
NM_024919.6
p.G150R
c.448G>A
1 paper
NM_024919.6
p.E128_G129Splc
c.384+1G>A
1 paper
NM_024919.6
p.F107L
c.319T>C
1 paper
NM_024919.6
p.R159W
c.475C>T
1 paper
NM_024919.6
p.R159Q
c.476G>A
1 paper
NM_024919.6
p.Y163C
c.488A>G
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