Varaico: Literature-Extracted Genetic Variants

Gene:RBMX
Variant:p.P301L

RBMX

183 papers

RefSeq Summary

This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed wher...

Pfam Domains

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

Gene Aliases

HGNC Name

RNA binding motif protein X-linked

HGNC Alias Symbols

RNMX; hnRNP-G; HNRNPG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_002139.4
p.P301L
c.902C>T
Surrounding Variants
1 paper
NM_002139.4
p.P301S
c.901C>T
11 papers
NM_002139.4
p.P302insFs
c.904_905dupCC
3 papers
NM_002139.4
p.P302fs
c.904_905fs
6 papers
NM_002139.4
p.S303fs
c.907_908fs
4 papers
NM_002139.4
p.S303fs
c.907_908fs
2 papers
NM_002139.4
p.T297T
c.891A>G
1 paper
NM_002139.4
p.S293N
c.878G>A
2 papers
NM_002139.4
p.D312N
c.934G>A
2 papers
NM_002139.4
p.S314_S315insTT
c.940_944ins6
4 papers
NM_002139.4
p.S315_S316insTT
c.943_947ins6
1 paper
NM_002139.4
p.S323I
c.968G>T
7 papers
NM_002139.4
p.R324P
c.971G>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."