Varaico: Literature-Extracted Genetic Variants

Gene:FSHB
Variant:p.C11R

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
1 paper
NM_001382289.1
p.C11R
c.31T>C
Surrounding Variants
1 paper
NM_001382289.1
p.C11S
c.31T>A
1 paper
NM_001382289.1
p.C11S
c.32G>C
1 paper
NM_001382289.1
p.L9insFs
c.26dupT
1 paper
NM_001382289.1
p.F8L
c.22T>C
1 paper
NM_001382289.1
p.F7insFs
c.19_20insA
1 paper
NM_001382289.1
p.I16I
c.48C>T
2 papers
NM_001382289.1
p.T3R
c.8C>G
6 papers
NM_001382289.1
p.S20I
c.59G>T
1 paper
NM_001382289.1
p.S20_C21ins2
c.60_61ins6
1 paper
NM_001382289.1
p.T24_I30delFs
c.70_89del20
1 paper
NM_001382289.1
p.T24A
c.70A>G
1 paper
NM_001382289.1
p.N25H
c.73A>C
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