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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CALR3

CALR3

99 papers

RefSeq Summary

The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to th...

Pfam Domains

Calreticulinaa 23–248UCSCCalreticulin family

Calreticulinaa 247–318UCSCCalreticulin family

Gene Aliases

HGNC Name

calreticulin 3

HGNC Alias Symbols

CRT2; FLJ25355; MGC26577; CT93

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 108 variants

10 papers

chr19:16490519 T>C

NM_145046.5

p.K82R

c.245A>G

Calreticulin

Exome: 0.1% (AC=1457, hom=3)Genome: 0.1% (AC=101, hom=1)11 overlapping SVs

8 papers

chr19:16490546 C>T

NM_145046.5

p.R73Q

c.218G>A

Calreticulin

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

4 papers

chr19:16485252 C>T

NM_145046.5

p.D135N

c.403G>A

Calreticulin

Exome: 0.0% (AC=390, hom=0)Genome: 0.0% (AC=17, hom=0)12 overlapping SVs

4 papers

chr19:16482535 C>T

NM_145046.5

p.R278H

c.833G>A

Calreticulin

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=2, hom=0)10 overlapping SVs

3 papers

chr19:16482518 C>T

NM_145046.5

p.D284N

c.850G>A

Calreticulin

Exome: 0.1% (AC=746, hom=4)Genome: 0.4% (AC=665, hom=6)10 overlapping SVs

2 papers

chr19:16496102 C>T

NM_145046.5

p.A10T

c.28G>A

Exome: 0.0% (AC=89, hom=0)Genome: 0.0% (AC=6, hom=0)13 overlapping SVs

2 papers

chr19:16495750 C>T

NM_145046.5

p.G65Splc

c.193+1G>A

Calreticulin

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

2 papers

chr19:16485171 T>C

NM_145046.5

p.R162G

c.484A>G

Calreticulin

Exome: 0.0% (AC=1, hom=0)Genome: n/a12 overlapping SVs

2 papers

chr19:16484043 GA>G

NM_145046.5

p.G188delFs

c.564delA

Calreticulin

Exome: 0.0% (AC=186, hom=1)Genome: 0.0% (AC=17, hom=0)11 overlapping SVs

2 papers

chr19:16483982 G>A

NM_145046.5

p.T209M

c.626C>T

Calreticulin

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

2 papers

chr19:16482689 G>A

NM_145046.5

p.P259S

c.775C>T

Calreticulin

exact variant not in gnomAD10 overlapping SVs

2 papers

chr19:16482566 CT>C

NM_145046.5

p.P267delFs

c.801delT

Calreticulin

Exome: n/aGenome: 0.0% (AC=1, hom=0)10 overlapping SVs

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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."