Varaico: Literature-Extracted Genetic Variants

Gene:CLGN
Variant:p.S431L

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.S431L
c.1292C>T
Surrounding Variants
2 papers
NM_004362.3
p.D437Y
c.1309G>T
1 paper
NM_004362.3
p.A441S
c.1321G>T
1 paper
NM_004362.3
p.W444C
c.1332G>T
1 paper
NM_004362.3
p.W444C
c.1332G>C
1 paper
NM_004362.3
p.F403L
c.1209T>A
1 paper
NM_004362.3
p.Y396_F397insT
c.1186_1190ins3
1 paper
NM_004362.3
p.P394L
c.1181C>T
1 paper
NM_004362.3
p.R389Q
c.1166G>A
1 paper
NM_004362.3
p.L474F
c.1422G>T
1 paper
NM_004362.3
p.L474F
c.1422G>C
1 paper
NM_004362.3
p.K499K
c.1497A>G
1 paper
NM_004362.3
p.T508delFs
c.1522delT
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