Varaico: Literature-Extracted Genetic Variants

Gene:LUC7L2
Variant:p.R288P

LUC7L2

64 papers

RefSeq Summary

This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and th...

Pfam Domains

LUC7aa 5–253UCSCLUC7 N_terminus

Gene Aliases

HGNC Name

LUC7 like 2, pre-mRNA splicing factor

HGNC Alias Symbols

CGI-74; CGI-59; H_NH0792N18.3; FLJ10657; LUC7B2; hLuc7B2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016019.5
p.R288P
c.863G>C
Surrounding Variants
1 paper
NM_016019.5
p.E287D
c.861A>C
1 paper
NM_016019.5
p.E287D
c.861A>T
1 paper
NM_016019.5
p.R302L
c.905G>T
1 paper
NM_016019.5
p.H321Q
c.963C>A
1 paper
NM_016019.5
p.H321Q
c.963C>G
2 papers
NM_016019.5
p.R330*
c.988C>T
1 paper
NM_016019.5
p.D344G
c.1031A>G
1 paper
NM_016019.5
p.A346T
c.1036G>A
1 paper
NM_016019.5
p.C348R
c.1042T>C
1 paper
NM_016019.5
p.K269insFs
c.805dupA
1 paper
NM_016019.5
p.R262*
c.784C>T
1 paper
NM_016019.5
p.E253fs
c.757_758fs
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."