Varaico: Literature-Extracted Genetic Variants

Gene:RBMS1

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
1–12 of 33 variants
3 papers
NM_016836.4
p.M34K
c.101T>A
2 papers
NM_016836.4
p.T91S
c.271A>T
2 papers
NM_016836.4
p.F110S
c.329T>C
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.K3R
c.8A>G
1 paper
NM_016836.4
p.K25_Q26Splc
c.76-48746G>T
1 paper
NM_016836.4
p.K25_Q26Splc
c.76-1G>C
1 paper
NM_016836.4
p.V29D
c.86T>A
1 paper
NM_016836.4
p.S38G
c.112A>G
1 paper
NM_016836.4
p.L64H
c.191T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."