Varaico: Literature-Extracted Genetic Variants

Gene:CLGN
Variant:p.K320R

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.K320R
c.959A>G
Surrounding Variants
1 paper
NM_004362.3
p.D317A
c.950A>C
1 paper
NM_004362.3
p.S307I
c.920G>T
1 paper
NM_004362.3
p.W333Splc
c.998+1G>C
2 papers
NM_004362.3
p.I303T
c.908T>C
1 paper
NM_004362.3
p.E299E
c.897A>G
1 paper
NM_004362.3
p.G339R
c.1015G>C
1 paper
NM_004362.3
p.G339R
c.1015G>A
4 papers
NM_004362.3
p.R352W
c.1054C>T
1 paper
NM_004362.3
p.P361H
c.1082C>A
1 paper
NM_004362.3
p.M362I
c.1086G>T
1 paper
NM_004362.3
p.M362I
c.1086G>C
1 paper
NM_004362.3
p.M362I
c.1086G>A
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