Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.F349fs

GDF1

94 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGF_betaaa 266–371UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001492.6
p.F349fs
c.1045_1046fs
Surrounding Variants
1 paper
NM_001492.6
p.F349fs
c.1045_1046fs
4 papers
NM_001492.6
p.F349_F350delFs
c.1047_1050del4
1 paper
NM_001492.6
p.S346F
c.1037C>T
1 paper
NM_001492.6
p.P339L
c.1016C>T
1 paper
NM_001492.6
p.P339H
c.1016C>A
1 paper
NM_001492.6
p.Y361*
c.1083T>G
1 paper
NM_001492.6
p.Y361*
c.1083T>A
7 papers
NM_001492.6
p.M364T
c.1091T>C
3 papers
NM_001492.6
p.M364del1
c.1090_1092delCAT
1 paper
NM_001492.6
p.A332delFs
c.996delG
1 paper
NM_001492.6
p.D333fs
c.997_998fs
1 paper
NM_001492.6
p.P329P
c.987G>A
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