Varaico: Literature-Extracted Genetic Variants

Gene:RBMXL1

RBMXL1

94 papers

RefSeq Summary

This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX ...

Pfam Domains

RRM_1aa 10–80UCSCRNA recognition motif
RBM1CTRaa 173–217UCSCRBM1CTR (NUC064) family

Gene Aliases

HGNC Name

RBMX like 1

HGNC Alias Symbol

KAT3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
14 papers
NM_001162536.3
p.G71A
c.212G>C
9 papers
NM_001162536.3
p.T26A
c.76A>G
9 papers
NM_001162536.3
p.I40M
c.120A>G
8 papers
NM_001162536.3
p.A78T
c.232G>A
7 papers
NM_001162536.3
p.T26T
c.78A>T
7 papers
NM_001162536.3
p.Y214*
c.642T>G
7 papers
NM_001162536.3
p.Y214*
c.642T>A
6 papers
NM_001162536.3
p.K9N
c.27G>T
6 papers
NM_001162536.3
p.K9N
c.27G>C
6 papers
NM_001162536.3
p.Y234C
c.701A>G
4 papers
NM_001162536.3
p.M1fs
c.1_2fs
4 papers
NM_001162536.3
p.R91S
c.273A>T
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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."