Varaico: Literature-Extracted Genetic Variants

Gene:CLMN
Variant:p.L136F

CLMN

77 papers

Pfam Domains

CHaa 32–140UCSCCalponin homology (CH) domain
CHaa 187–292UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

calmin

HGNC Alias Symbols

FLJ12383; KIAA1188; KIAA0500

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024734.4
p.L136F
c.406C>T
Surrounding Variants
2 papers
NM_024734.4
p.P158A
c.472C>G
1 paper
NM_024734.4
p.F169F
c.507C>T
1 paper
NM_024734.4
p.E176D
c.528G>T
1 paper
NM_024734.4
p.E176D
c.528G>C
1 paper
NM_024734.4
p.G213S
c.637G>A
1 paper
NM_024734.4
p.G218G
c.654G>A
1 paper
NM_024734.4
p.A220S
c.658G>T
1 paper
NM_024734.4
p.A227A
c.681C>T
1 paper
NM_024734.4
p.I228V
c.682A>G
1 paper
NM_024734.4
p.R244*
c.730C>T
1 paper
NM_024734.4
p.L247P
c.740T>C
1 paper
NM_024734.4
p.E248K
c.742G>A
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