Varaico: Literature-Extracted Genetic Variants

FSTL1

57 papers

RefSeq Summary

This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene produ...

Pfam Domains

FOLNaa 31–52UCSCFollistatin/Osteonectin-like EGF domain

Kazal_2aa 53–98UCSCKazal-type serine protease inhibitor domain

EF-hand_FSTL1aa 113–232UCSCFollistatin-related protein 1, EF-hand domain pair

VWFaa 238–265UCSCVon Willebrand factor-like domain

Gene Aliases

HGNC Name

follistatin like 1

HGNC Alias Symbols

FRP; FSL1; OCC1; OCC-1; tsc36

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007085.5

p.L235V

c.703C>G

Surrounding Variants

1 paper

NM_007085.5

p.T239M

c.716C>T

1 paper

NM_007085.5

p.D242N

c.724G>A

1 paper

NM_007085.5

p.W260*

c.779G>A

1 paper

NM_007085.5

p.W260*

c.780G>A

1 paper

NM_007085.5

p.T263P

c.787A>C

1 paper

NM_007085.5

p.M265I

c.795G>T

1 paper

NM_007085.5

p.M265I

c.795G>C

1 paper

NM_007085.5

p.M265I

c.795G>A

1 paper

NM_007085.5

p.E230Q

c.688G>C

1 paper

NM_007085.5

p.P228L

c.683C>T

1 paper

NM_007085.5

p.W211*

c.632G>A

1 paper

NM_007085.5

p.A200V

c.599C>T