Varaico: Literature-Extracted Genetic Variants

Gene:CALML5
Variant:p.D95fs

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.D95fs
c.283_284fs
Surrounding Variants
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.D91N
c.271G>A
1 paper
NM_017422.5
p.A86T
c.256G>A
1 paper
NM_017422.5
p.R105W
c.313C>T
1 paper
NM_017422.5
p.G79delFs
c.236delC
1 paper
NM_017422.5
p.G79fs
c.235_236fs
1 paper
NM_017422.5
p.Q112R
c.335A>G
1 paper
NM_017422.5
p.P115Q
c.344C>A
8 papers
NM_017422.5
p.K74R
c.221A>G
1 paper
NM_017422.5
p.A73_K74delins
c.219_221delinsAAG
2 papers
NM_017422.5
p.A73A
c.219G>A
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