Varaico: Literature-Extracted Genetic Variants

Gene:LEFTY1
Variant:p.L92S

LEFTY1

63 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 24–224UCSCTGF-beta propeptide
TGF_betaaa 262–353UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

left-right determination factor 1

HGNC Previous Symbol

LEFTB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_020997.4
p.L92S
c.275T>C
Surrounding Variants
1 paper
NM_020997.4
p.E84Splc
c.251-35G>C
1 paper
NM_020997.4
p.V114A
c.341T>C
1 paper
NM_020997.4
p.P124L
c.371C>T
1 paper
NM_020997.4
p.S137fs
c.409_410fs
1 paper
NM_020997.4
p.A143_V145del0
c.428_433del6
1 paper
NM_020997.4
p.D154Y
c.460G>T
1 paper
NM_020997.4
p.D154N
c.460G>A
1 paper
NM_020997.4
p.Q188*
c.562C>T
1 paper
NM_020997.4
p.R194W
c.580C>T
1 paper
NM_020997.4
p.L198V
c.592C>G
1 paper
NM_020997.4
p.A212V
c.635C>T
1 paper
NM_020997.4
p.S213S
c.639C>T
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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."