Varaico: Literature-Extracted Genetic Variants

Gene:CLGN

CLGN

54 papers

RefSeq Summary

Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008].

Pfam Domains

Calreticulinaa 62–429UCSCCalreticulin family

Gene Aliases

HGNC Name

calmegin

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
4 papers
NM_004362.3
p.R352W
c.1054C>T
3 papers
NM_004362.3
p.A160S
c.478G>T
3 papers
NM_004362.3
p.V290I
c.868G>A
2 papers
NM_004362.3
p.I303T
c.908T>C
2 papers
NM_004362.3
p.D437Y
c.1309G>T
1 paper
NM_004362.3
p.L10L
c.30G>A
1 paper
NM_004362.3
p.S43I
c.128G>T
1 paper
NM_004362.3
p.S46Y
c.137C>A
1 paper
NM_004362.3
p.Q55K
c.163C>A
1 paper
NM_004362.3
p.K80E
c.238A>G
1 paper
NM_004362.3
p.D92N
c.274G>A
1 paper
NM_004362.3
p.W95*
c.284G>A
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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."