Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LEFTY1

Variant:p.W5G

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:225889054 A>C

NM_020997.4

p.W5G

c.13T>G

exact variant not in gnomAD82 overlapping SVs

Surrounding Variants

1 paper

chr1:225889064 C>T

NM_020997.4

p.M1I

c.3G>A

Exome: 0.0% (AC=28, hom=0)Genome: n/a82 overlapping SVs

1 paper

chr1:225889039 G>T

NM_020997.4

p.L10I

c.28C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a82 overlapping SVs

3 papers

chr1:225888969 C>T

NM_020997.4

p.R33Q

c.98G>A

TGFb_propeptide

Exome: 4.6% (AC=66018, hom=1957)Genome: 4.0% (AC=6066, hom=194)83 overlapping SVs

1 paper

chr1:225888967 G>T

NM_020997.4

p.Q34K

c.100C>A

TGFb_propeptide

exact variant not in gnomAD83 overlapping SVs

2 papers

chr1:225888898 C>T

NM_020997.4

p.V57M

c.169G>A

TGFb_propeptide

Exome: 0.4% (AC=5458, hom=324)Genome: 3.7% (AC=5592, hom=332)83 overlapping SVs

1 paper

chr1:225888868 G>A

NM_020997.4

p.R67C

c.199C>T

TGFb_propeptide

Exome: 0.0% (AC=3, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr1:225888856 C>A

NM_020997.4

p.D71Y

c.211G>T

TGFb_propeptide

exact variant not in gnomAD83 overlapping SVs

1 paper

chr1:225888835 A>T

NM_020997.4

p.F78I

c.232T>A

TGFb_propeptide

exact variant not in gnomAD83 overlapping SVs

1 paper

chr1:225888067 C>G

NM_020997.4

p.E84Splc

c.251-35G>C

Exome: 2.1% (AC=28889, hom=2158)Genome: 10.3% (AC=15320, hom=1343)82 overlapping SVs

7 papers

chr1:225888008 A>G

NM_020997.4

p.L92S

c.275T>C

TGFb_propeptide

Exome: 2.3% (AC=32061, hom=2642)Genome: 10.7% (AC=15879, hom=1460)82 overlapping SVs

1 paper

chr1:225887942 A>G

NM_020997.4

p.V114A

c.341T>C

TGFb_propeptide

Exome: 0.0% (AC=1, hom=0)Genome: n/a82 overlapping SVs

1 paper

chr1:225887912 G>A

NM_020997.4

p.P124L

c.371C>T

TGFb_propeptide

Exome: 0.0% (AC=0, hom=0)Genome: n/a82 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."