Varaico: Literature-Extracted Genetic Variants

Gene:FSHB
Variant:p.C122R

FSHB

72 papers

RefSeq Summary

The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an ...

Pfam Domains

Cys_knotaa 18–122UCSCCystine-knot domain

Gene Aliases

HGNC Name

follicle stimulating hormone subunit beta

HGNC Previous Name

follicle stimulating hormone, beta polypeptide

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001382289.1
p.C122R
c.364T>C
Surrounding Variants
1 paper
NM_001382289.1
p.C122*
c.366C>A
1 paper
NM_001382289.1
p.G118W
c.352G>T
1 paper
NM_001382289.1
p.L117L
c.349C>T
1 paper
NM_001382289.1
p.G116D
c.347G>A
2 papers
NM_001382289.1
p.G116_L117del2
c.346_350del6
5 papers
NM_001382289.1
p.R115*
c.343C>T
3 papers
NM_001382289.1
p.S109R
c.327C>A
2 papers
NM_001382289.1
p.S109R
c.327C>G
2 papers
NM_001382289.1
p.S109R
c.325A>C
2 papers
NM_001382289.1
p.G103D
c.308G>A
3 papers
NM_001382289.1
p.C100R
c.298T>C
1 paper
NM_001382289.1
p.T98insFs
c.293_294insC
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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."