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.G39C

c.115G>T

Surrounding Variants

1 paper

NM_007085.5

p.E46Q

c.136G>C

1 paper

NM_007085.5

p.E46K

c.136G>A

1 paper

NM_007085.5

p.A32T

c.94G>A

1 paper

NM_007085.5

p.C31*

c.93T>A

1 paper

NM_007085.5

p.K29K

c.87G>A

1 paper

NM_007085.5

p.P50H

c.149C>A

1 paper

NM_007085.5

p.N69K

c.207T>G

1 paper

NM_007085.5

p.N69K

c.207T>A

1 paper

NM_007085.5

p.R81Q

c.242G>A

1 paper

NM_007085.5

p.A108delFs

c.322delC

1 paper

NM_007085.5

p.V111G

c.332T>G

1 paper

NM_007085.5

p.Q115K

c.343C>A