Varaico: Literature-Extracted Genetic Variants

Gene:CALML5
Variant:p.F139F

CALML5

28 papers

RefSeq Summary

This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate i...

Pfam Domains

EF-hand_7aa 10–74UCSCEF-hand domain pair
EF-hand_7aa 80–144UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calmodulin like 5

HGNC Alias Symbol

CLSP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017422.5
p.F139F
c.417C>T
Surrounding Variants
1 paper
NM_017422.5
p.R133L
c.398G>T
1 paper
NM_017422.5
p.*147W
c.441A>G
1 paper
NM_017422.5
p.D127E
c.381C>G
1 paper
NM_017422.5
p.D127E
c.381C>A
1 paper
NM_017422.5
p.D127N
c.379G>A
1 paper
NM_017422.5
p.I123I
c.369C>T
1 paper
NM_017422.5
p.P115Q
c.344C>A
1 paper
NM_017422.5
p.Q112R
c.335A>G
1 paper
NM_017422.5
p.R105W
c.313C>T
1 paper
NM_017422.5
p.G96S
c.286G>A
1 paper
NM_017422.5
p.D95delFs
c.285delG
1 paper
NM_017422.5
p.D95fs
c.283_284fs
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