Varaico: Literature-Extracted Genetic Variants

Gene:FERMT2
Variant:p.D53Splc

FERMT2

106 papers

Pfam Domains

Kindlin_2_Naa 13–97UCSCKindlin-2 N-terminal domain
FERM_Maa 281–429UCSCFERM central domain
PHaa 375–476UCSCPH domain
FERM_Maa 450–573UCSCFERM central domain

Gene Aliases

HGNC Name

FERM domain containing kindlin 2

HGNC Previous Symbol

PLEKHC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006832.3
p.D53Splc
c.157+90G>C
Surrounding Variants
1 paper
NM_006832.3
p.D53Splc
c.157+77G>T
1 paper
NM_006832.3
p.E50E
c.150G>A
1 paper
NM_006832.3
p.V49V
c.147G>C
3 papers
NM_006832.3
p.G16V
c.47G>T
1 paper
NM_006832.3
p.G16R
c.46G>C
1 paper
NM_006832.3
p.G16R
c.46G>A
1 paper
NM_006832.3
p.D53Splc
c.157+1831G>C
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