Varaico: Literature-Extracted Genetic Variants

FST

122 papers

RefSeq Summary

Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino...

Pfam Domains

FST_Naa 30–92UCSCFollistatin, N-terminal

FOLNaa 95–116UCSCFollistatin/Osteonectin-like EGF domain

Kazal_2aa 117–164UCSCKazal-type serine protease inhibitor domain

Kazal_2aa 191–239UCSCKazal-type serine protease inhibitor domain

Kazal_2aa 269–316UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

follistatin

HGNC Alias Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013409.3

p.V190A

c.569T>C

Surrounding Variants

1 paper

NM_013409.3

p.V190V

c.570G>A

1 paper

NM_013409.3

p.R194Q

c.581G>A

1 paper

NM_013409.3

p.A200P

c.598G>C

1 paper

NM_013409.3

p.S202Y

c.605C>A

1 paper

NM_013409.3

p.S177T

c.529T>A

1 paper

NM_013409.3

p.Q204*

c.610C>T

1 paper

NM_013409.3

p.G175G

c.525C>G

1 paper

NM_013409.3

p.G208E

c.623G>A

1 paper

NM_013409.3

p.G208A

c.623G>C

1 paper

NM_013409.3

p.C218fs

c.652_653fs

1 paper

NM_013409.3

p.S230Y

c.689C>A

2 papers

NM_013409.3

p.C239S

c.715T>A