Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.L113V

RBM8A

104 papers

RefSeq Summary

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mR...

Pfam Domains

RRM_1aa 75–145UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 8A

HGNC Previous Symbol

RBM8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005105.5
p.L113V
c.337C>G
Surrounding Variants
1 paper
NM_005105.5
p.L113L
c.337C>T
1 paper
NM_005105.5
p.R109Q
c.326G>A
2 papers
NM_005105.5
p.R109*
c.325C>T
1 paper
NM_005105.5
p.L106R
c.317T>G
1 paper
NM_005105.5
p.L104F
c.310C>T
1 paper
NM_005105.5
p.K100delFs
c.298_299delTT
1 paper
NM_005105.5
p.Y96C
c.287A>G
1 paper
NM_005105.5
p.E95A
c.284A>C
1 paper
NM_005105.5
p.F93V
c.277T>G
1 paper
NM_005105.5
p.D91A
c.272A>C
1 paper
NM_005105.5
p.E86A
c.257A>C
1 paper
NM_005105.5
p.E83A
c.248A>C
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."