Varaico: Literature-Extracted Genetic Variants

Gene:FERMT2
Variant:p.K187R

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.K187R
c.560A>G
Surrounding Variants
1 paper
NM_006832.3
p.T190S
c.568A>T
1 paper
NM_006832.3
p.T190S
c.569C>G
1 paper
NM_006832.3
p.T190N
c.569C>A
1 paper
NM_006832.3
p.S211_S214del0
c.633_641del9
1 paper
NM_006832.3
p.I220V
c.658A>G
1 paper
NM_006832.3
p.V223I
c.667G>A
2 papers
NM_006832.3
p.P226insFs
c.676_677insC
1 paper
NM_006832.3
p.T228M
c.683C>T
1 paper
NM_006832.3
p.A246E
c.737C>A
1 paper
NM_006832.3
p.D263E
c.789T>A
1 paper
NM_006832.3
p.E266A
c.797A>C
1 paper
NM_006832.3
p.K275K
c.825G>A
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