Varaico: Literature-Extracted Genetic Variants

Gene:CALU
Variant:p.K84*

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
2 papers
NM_001219.5
p.K84*
c.250A>T
Surrounding Variants
1 paper
NM_001219.5
p.D91N
c.271G>A
1 paper
NM_001219.5
p.E92K
c.274G>A
1 paper
NM_001219.5
p.W96S
c.287G>C
1 paper
NM_001219.5
p.K98R
c.293A>G
1 paper
NM_001219.5
p.W104S
c.311G>C
1 paper
NM_001219.5
p.E110Q
c.328G>C
1 paper
NM_001219.5
p.E110*
c.328G>T
1 paper
NM_001219.5
p.G115E
c.344G>A
1 paper
NM_001219.5
p.E120K
c.358G>A
1 paper
NM_001219.5
p.W126*
c.377G>A
1 paper
NM_001219.5
p.T133I
c.398C>T
1 paper
NM_001219.5
p.K161T
c.482A>C
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