Varaico: Literature-Extracted Genetic Variants

Gene:RBMS1
Variant:p.L157L

RBMS1

68 papers

RefSeq Summary

This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-C...

Pfam Domains

RRM_1aa 64–129UCSCRNA recognition motif
RRM_1aa 143–209UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif single stranded interacting protein 1

HGNC Previous Symbol

C2orf12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016836.4
p.L157L
c.471A>G
Surrounding Variants
1 paper
NM_016836.4
p.E158Q
c.472G>C
1 paper
NM_016836.4
p.S177R
c.531T>A
2 papers
NM_016836.4
p.M188I
c.564G>T
2 papers
NM_016836.4
p.M188I
c.564G>C
2 papers
NM_016836.4
p.M188I
c.564G>A
1 paper
NM_016836.4
p.T191A
c.571A>G
1 paper
NM_016836.4
p.A130T
c.388G>A
1 paper
NM_016836.4
p.D111H
c.331G>C
2 papers
NM_016836.4
p.F110S
c.329T>C
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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."