Varaico: Literature-Extracted Genetic Variants

Gene:CALU
Variant:p.F16insFs

CALU

56 papers

RefSeq Summary

The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a fami...

Pfam Domains

EF-hand_5aa 277–292UCSCEF hand

Gene Aliases

HGNC Name

calumenin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001219.5
p.F16insFs
c.46dupT
Surrounding Variants
1 paper
NM_001219.5
p.P21A
c.61C>G
1 paper
NM_001219.5
p.Q5L
c.14A>T
15 papers
NM_001219.5
p.R4Q
c.11G>A
2 papers
NM_001219.5
p.D36Y
c.106G>T
2 papers
NM_001219.5
p.D36G
c.107A>G
1 paper
NM_001219.5
p.N40S
c.119A>G
1 paper
NM_001219.5
p.A42V
c.125C>T
1 paper
NM_001219.5
p.E56K
c.166G>A
1 paper
NM_001219.5
p.G74E
c.221G>A
2 papers
NM_001219.5
p.K84*
c.250A>T
1 paper
NM_001219.5
p.D91N
c.271G>A
1 paper
NM_001219.5
p.E92K
c.274G>A
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