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

1–12 of 66 variants

3 papers

NM_013409.3

p.G103E

c.308G>A

2 papers

NM_013409.3

p.E152Q

c.454G>C

2 papers

NM_013409.3

p.C239S

c.715T>A

2 papers

NM_013409.3

p.C239S

c.716G>C

2 papers

NM_013409.3

p.D333G

c.998A>G

1 paper

NM_013409.3

p.M1delFs

c.1_2delAT

1 paper

NM_013409.3

p.M1_V2del2

c.1_5del6

1 paper

NM_013409.3

p.R3Fs

c.7delinsTGGTCFs

1 paper

NM_013409.3

p.H6Y

c.16C>T

1 paper

NM_013409.3

p.Q7E

c.19C>G

1 paper

NM_013409.3

p.L11I

c.31C>A

1 paper

NM_013409.3

p.L15fs

c.43_44fs