Varaico: Literature-Extracted Genetic Variants

Gene:FRMD1
Variant:p.Y163C

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.Y163C
c.488A>G
Surrounding Variants
1 paper
NM_024919.6
p.H165N
c.493C>A
1 paper
NM_024919.6
p.R159Q
c.476G>A
1 paper
NM_024919.6
p.R159W
c.475C>T
1 paper
NM_024919.6
p.R169C
c.505C>T
1 paper
NM_024919.6
p.S173P
c.517T>C
1 paper
NM_024919.6
p.A181S
c.541G>T
1 paper
NM_024919.6
p.A189V
c.566C>T
1 paper
NM_024919.6
p.D193G
c.578A>G
1 paper
NM_024919.6
p.S200*
c.599C>A
1 paper
NM_024919.6
p.F207S
c.620T>C
1 paper
NM_024919.6
p.S211S
c.633C>T
1 paper
NM_024919.6
p.P214T
c.640C>A
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