Varaico: Literature-Extracted Genetic Variants

Gene:CALML5
Variant:p.K42R

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
1 paper
NM_017422.5
p.K42R
c.125A>G
Surrounding Variants
1 paper
NM_017422.5
p.N29I
c.86A>T
4 papers
NM_017422.5
p.S58G
c.172A>G
1 paper
NM_017422.5
p.G26D
c.77G>A
1 paper
NM_017422.5
p.N25K
c.75C>G
1 paper
NM_017422.5
p.N25K
c.75C>A
1 paper
NM_017422.5
p.N25S
c.74A>G
2 papers
NM_017422.5
p.A73A
c.219G>A
8 papers
NM_017422.5
p.K74R
c.221A>G
1 paper
NM_017422.5
p.A73_K74delins
c.219_221delinsAAG
1 paper
NM_017422.5
p.G79fs
c.235_236fs
1 paper
NM_017422.5
p.G79delFs
c.236delC
2 papers
NM_017422.5
p.A2V
c.5C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."