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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBPMS2

Variant:p.A83V

RBPMS2

12 papers

RefSeq Summary

The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The...

Pfam Domains

RRM_1aa 33–97UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding protein, mRNA processing factor 2

HGNC Previous Name

RNA binding protein with multiple splicing 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr15:64749450 G>A

NM_194272.3

p.A83V

c.248C>T

RRM_1

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=5, hom=0)16 overlapping SVs

Surrounding Variants

1 paper

chr15:64749456 G>C

NM_194272.3

p.A81G

c.242C>G

RRM_1

exact variant not in gnomAD16 overlapping SVs

1 paper

chr15:64749033 C>T

NM_194272.3

p.A129T

c.385G>A

Exome: 0.4% (AC=6390, hom=14)Genome: 0.2% (AC=350, hom=0)17 overlapping SVs

1 paper

chr15:64748540 G>A

NM_194272.3

p.P149L

c.446C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr15:64748508 A>C

NM_194272.3

p.L160V

c.478T>G

exact variant not in gnomAD17 overlapping SVs

1 paper

chr15:64751597 T>A

NM_194272.3

p.K43N

c.129A>T

RRM_1

exact variant not in gnomAD16 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."