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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LSM3

LSM3

13 papers

RefSeq Summary

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consist...

Pfam Domains

LSMaa 19–97UCSCLSM domain

Gene Aliases

HGNC Name

LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

HGNC Alias Symbols

YLR438C; SMX4; USS2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr3:14181647 C>T

NM_014463.3

p.R37*

c.109C>T

LSM

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=5, hom=0)31 overlapping SVs

2 papers

chr3:14198057 A>G

NM_014463.3

p.M84V

c.250A>G

LSM

Exome: 0.0% (AC=5, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr3:14181648 G>A

NM_014463.3

p.R37Q

c.110G>A

LSM

Exome: 0.0% (AC=2, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr3:14183960 G>A

NM_014463.3

p.M52I

c.156G>A

LSM

Exome: 0.0% (AC=14, hom=0)Genome: n/a29 overlapping SVs

1 paper

chr3:14183960 G>C

NM_014463.3

p.M52I

c.156G>C

LSM

exact variant not in gnomAD29 overlapping SVs

1 paper

chr3:14183960 G>T

NM_014463.3

p.M52I

c.156G>T

LSM

Exome: 0.0% (AC=1, hom=0)Genome: n/a29 overlapping SVs

1 paper

chr3:14198115 G>A

NM_014463.3

p.*103*

c.308G>A

exact variant not in gnomAD28 overlapping SVs

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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."