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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LSM14A

Variant:p.S103P

LSM14A

30 papers

RefSeq Summary

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

Pfam Domains

LSM14aa 6–80UCSCScd6-like Sm domain

FDFaa 290–399UCSCFDF domain

Gene Aliases

HGNC Name

LSM14A mRNA processing body assembly factor

HGNC Previous Symbols

C19orf13; FAM61A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr19:34196655 T>C

NM_015578.4

p.S103P

c.307T>C

Exome: 0.5% (AC=7243, hom=20)Genome: 0.3% (AC=502, hom=4)7 overlapping SVs

Surrounding Variants

3 papers

chr19:34196691 G>A

NM_015578.4

p.G115S

c.343G>A

Exome: 0.0% (AC=727, hom=3)Genome: 0.0% (AC=62, hom=0)7 overlapping SVs

1 paper

chr19:34194529 G>A

NM_015578.4

p.R58Q

c.173G>A

LSM14

Exome: 0.0% (AC=3, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr19:34194493 C>T

NM_015578.4

p.T46I

c.137C>T

LSM14

exact variant not in gnomAD7 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."