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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LARP1B

Variant:p.R637I

LARP1B

52 papers

RefSeq Summary

This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and a...

Pfam Domains

Laaa 219–275UCSCLa domain

LARP1_HEATaa 696–844UCSCLARP1 HEAT repeat region

Gene Aliases

HGNC Name

La ribonucleoprotein 1B

HGNC Previous Symbol

LARP2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:128179419 G>T

NM_018078.4

p.R637I

c.1910G>T

exact variant not in gnomAD94 overlapping SVs

Surrounding Variants

1 paper

chr4:128179440 A>G

NM_018078.4

p.N644S

c.1931A>G

Exome: 0.0% (AC=436, hom=1)Genome: 0.1% (AC=97, hom=1)94 overlapping SVs

2 papers

chr4:128179488 G>A

NM_018078.4

p.R660H

c.1979G>A

Exome: 64.4% (AC=933179, hom=304659)Genome: 58.5% (AC=88956, hom=27310)94 overlapping SVs

1 paper

chr4:128178548 C>T

NM_018078.4

p.T601I

c.1802C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a94 overlapping SVs

1 paper

chr4:128178517 C>T

NM_018078.4

p.P591S

c.1771C>T

Exome: 0.0% (AC=4, hom=0)Genome: n/a94 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."