Varaico: Literature-Extracted Genetic Variants

Gene:LEFTY2
Variant:p.H171insFs

LEFTY2

53 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

TGFb_propeptideaa 79–225UCSCTGF-beta propeptide
TGFb_propeptideaa 79–225UCSCTGF-beta propeptide
TGF_betaaa 262–353UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

left-right determination factor 2

HGNC Previous Symbols

TGFB4; EBAF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003240.5
p.H171insFs
c.512_513insGC
Surrounding Variants
1 paper
NM_003240.5
p.R166W
c.496A>T
1 paper
NM_003240.5
p.Q188*
c.562C>T
1 paper
NM_003240.5
p.R192R
c.576G>A
1 paper
NM_003240.5
p.A226A
c.678G>A
1 paper
NM_003240.5
p.A226_P227del2
c.676_680del6
1 paper
NM_003240.5
p.P233P
c.699C>G
1 paper
NM_003240.5
p.N158N
c.474C>T
1 paper
NM_003240.5
p.L235delFs
c.705delC
1 paper
NM_003240.5
p.R153R
c.459C>T
1 paper
NM_003240.5
p.P138P
c.414G>A
1 paper
NM_003240.5
p.V117M
c.349G>A
1 paper
NM_003240.5
p.N110N
c.330C>T
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