Varaico: Literature-Extracted Genetic Variants

Gene:LUC7L3
Variant:p.E266*

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.E266*
c.796G>T
Surrounding Variants
2 papers
NM_016424.5
p.K259R
c.776A>G
1 paper
NM_016424.5
p.E255fs
c.763_764fs
1 paper
NM_016424.5
p.E255delFs
c.763delG
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.R296Q
c.887G>A
1 paper
NM_016424.5
p.R298G
c.892A>G
1 paper
NM_016424.5
p.R312Q
c.935G>A
1 paper
NM_016424.5
p.K231_E232Splc
c.694-49C>A
1 paper
NM_016424.5
p.S319N
c.956G>A
1 paper
NM_016424.5
p.S347G
c.1039A>G
1 paper
NM_016424.5
p.A225D
c.674C>A
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