Varaico: Literature-Extracted Genetic Variants

Gene:CALU
Variant:p.M162I

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.M162I
c.486G>C
Surrounding Variants
1 paper
NM_001219.5
p.M162I
c.486G>A
1 paper
NM_001219.5
p.M162I
c.486G>T
1 paper
NM_001219.5
p.K161T
c.482A>C
1 paper
NM_001219.5
p.A178T
c.532G>A
1 paper
NM_001219.5
p.V193I
c.577G>A
1 paper
NM_001219.5
p.Q194_E195Splc
c.582+133A>G
1 paper
NM_001219.5
p.D201N
c.601G>A
1 paper
NM_001219.5
p.I208M
c.624T>G
1 paper
NM_001219.5
p.T133I
c.398C>T
1 paper
NM_001219.5
p.W126*
c.377G>A
1 paper
NM_001219.5
p.E120K
c.358G>A
1 paper
NM_001219.5
p.G115E
c.344G>A
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