Varaico: Literature-Extracted Genetic Variants

Gene:FST
Variant:p.E49K

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

FS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013409.3
p.E49K
c.145G>A
Surrounding Variants
1 paper
NM_013409.3
p.K52*
c.154A>T
1 paper
NM_013409.3
p.C42S
c.124T>A
1 paper
NM_013409.3
p.C56Y
c.167G>A
1 paper
NM_013409.3
p.K38E
c.112A>G
1 paper
NM_013409.3
p.L61L
c.181C>T
1 paper
NM_013409.3
p.A37P
c.109G>C
1 paper
NM_013409.3
p.L61Q
c.182T>A
1 paper
NM_013409.3
p.S62C
c.184A>T
1 paper
NM_013409.3
p.L34V
c.100C>G
1 paper
NM_013409.3
p.W33R
c.97T>A
1 paper
NM_013409.3
p.A29A
c.87T>A
1 paper
NM_013409.3
p.V70M
c.208G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."