Varaico: Literature-Extracted Genetic Variants

Gene:LUC7L3
Variant:p.S177_T178Splc

LUC7L3

56 papers

RefSeq Summary

This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE doma...

Pfam Domains

LUC7aa 3–275UCSCLUC7 N_terminus

Gene Aliases

HGNC Name

LUC7 like 3 pre-mRNA splicing factor

HGNC Alias Symbols

LUC7A; CROP; OA48-18; CREAP-1; FLJ11063; CRA; hLuc7A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016424.5
p.S177_T178Splc
c.531+2T>G
Surrounding Variants
1 paper
NM_016424.5
p.S174A
c.520T>G
1 paper
NM_016424.5
p.E163Q
c.487G>C
1 paper
NM_016424.5
p.V208I
c.622G>A
1 paper
NM_016424.5
p.A225D
c.674C>A
1 paper
NM_016424.5
p.K231_E232Splc
c.694-49C>A
1 paper
NM_016424.5
p.E255delFs
c.763delG
1 paper
NM_016424.5
p.E255fs
c.763_764fs
2 papers
NM_016424.5
p.K259R
c.776A>G
1 paper
NM_016424.5
p.E266*
c.796G>T
1 paper
NM_016424.5
p.R279*
c.835A>T
1 paper
NM_016424.5
p.D286A
c.857A>C
1 paper
NM_016424.5
p.L140L
c.420G>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."