Varaico: Literature-Extracted Genetic Variants

Gene:CLGN
Variant:p.R196delFs

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
Selected Variant
1 paper
NM_004362.3
p.R196delFs
c.587_588delTC
Surrounding Variants
1 paper
NM_004362.3
p.K208E
c.622A>G
1 paper
NM_004362.3
p.T202_K211del0
c.604_633del30
1 paper
NM_004362.3
p.P213L
c.638C>T
1 paper
NM_004362.3
p.D244G
c.731A>G
1 paper
NM_004362.3
p.P270S
c.808C>T
1 paper
NM_004362.3
p.K273R
c.818A>G
3 papers
NM_004362.3
p.A160S
c.478G>T
3 papers
NM_004362.3
p.V290I
c.868G>A
1 paper
NM_004362.3
p.E299E
c.897A>G
2 papers
NM_004362.3
p.I303T
c.908T>C
1 paper
NM_004362.3
p.S307I
c.920G>T
1 paper
NM_004362.3
p.D317A
c.950A>C
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