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.L146L

c.436C>T

Surrounding Variants

1 paper

NM_013409.3

p.R140R

c.420C>G

2 papers

NM_013409.3

p.E152Q

c.454G>C

1 paper

NM_013409.3

p.E157_V158delFs

c.470_473del4

1 paper

NM_013409.3

p.P120S

c.358C>T

1 paper

NM_013409.3

p.C106C

c.318C>T

3 papers

NM_013409.3

p.G103E

c.308G>A

1 paper

NM_013409.3

p.C100Y

c.299G>A

1 paper

NM_013409.3

p.E96D

c.288G>C

1 paper

NM_013409.3

p.G175G

c.525C>G

1 paper

NM_013409.3

p.S177T

c.529T>A

1 paper

NM_013409.3

p.V190A

c.569T>C

1 paper

NM_013409.3

p.V190V

c.570G>A