Varaico: Literature-Extracted Genetic Variants

Gene:CLGN
Variant:p.P129Q

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.P129Q
c.386C>A
Surrounding Variants
1 paper
NM_004362.3
p.L126S
c.377T>C
1 paper
NM_004362.3
p.F132_A133insFs
c.396_397insT
1 paper
NM_004362.3
p.A133fs
c.397_398fs
1 paper
NM_004362.3
p.E99D
c.297G>T
1 paper
NM_004362.3
p.E99D
c.297G>C
1 paper
NM_004362.3
p.W95*
c.285G>A
1 paper
NM_004362.3
p.W95*
c.284G>A
1 paper
NM_004362.3
p.D92N
c.274G>A
1 paper
NM_004362.3
p.K80E
c.238A>G
3 papers
NM_004362.3
p.A160S
c.478G>T
1 paper
NM_004362.3
p.Q55K
c.163C>A
1 paper
NM_004362.3
p.R196delFs
c.587_588delTC
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