Varaico: Literature-Extracted Genetic Variants

Gene:FSHB
Variant:p.K72E

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.K72E
c.214A>G
Surrounding Variants
2 papers
NM_001382289.1
p.E73Q
c.217G>C
1 paper
NM_001382289.1
p.V75_R80insFs
c.224_240dup17
3 papers
NM_001382289.1
p.C69G
c.205T>G
9 papers
NM_001382289.1
p.Y76*
c.228C>A
9 papers
NM_001382289.1
p.Y76*
c.228C>G
2 papers
NM_001382289.1
p.Y76Y
c.228C>T
3 papers
NM_001382289.1
p.V79delFs
c.236_237delTG
1 paper
NM_001382289.1
p.V79M
c.235G>A
4 papers
NM_001382289.1
p.V79fs
c.235_236fs
1 paper
NM_001382289.1
p.V79fs
c.235_236fs
1 paper
NM_001382289.1
p.P82delFs
c.244_245delCC
1 paper
NM_001382289.1
p.P60T
c.178C>A
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