Varaico: Literature-Extracted Genetic Variants

Gene:FERMT2
Variant:p.T513M

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
3 papers
NM_006832.3
p.T513M
c.1538C>T
Surrounding Variants
1 paper
NM_006832.3
p.S484A
c.1450T>G
1 paper
NM_006832.3
p.S475F
c.1424C>T
2 papers
NM_006832.3
p.R457C
c.1369C>T
1 paper
NM_006832.3
p.E453K
c.1357G>A
1 paper
NM_006832.3
p.P446A
c.1336C>G
2 papers
NM_006832.3
p.S435L
c.1304C>T
1 paper
NM_006832.3
p.V546A
c.1637T>C
1 paper
NM_006832.3
p.M556I
c.1668G>T
1 paper
NM_006832.3
p.M556I
c.1668G>C
1 paper
NM_006832.3
p.M556I
c.1668G>A
1 paper
NM_006832.3
p.F568C
c.1703T>G
1 paper
NM_006832.3
p.R595W
c.1783C>T
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