Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.A76fs

NRL

182 papers

RefSeq Summary

This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor develo...

Pfam Domains

Maf_Naa 67–101UCSCMaf N-terminal region
bZIP_Mafaa 132–223UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

neural retina leucine zipper

HGNC Alias Symbols

D14S46E; RP27; NRL-MAF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001354768.3
p.A76fs
c.226_227fs
Surrounding Variants
6 papers
NM_001354768.3
p.A76V
c.227C>T
2 papers
NM_001354768.3
p.A76fs
c.226_227fs
2 papers
NM_001354768.3
p.L75_A76insFs
c.225_226insC
10 papers
NM_001354768.3
p.L75fs
c.223_224fs
10 papers
NM_001354768.3
p.L75insFs
c.224_225insC
1 paper
NM_001354768.3
p.L75P
c.224T>C
5 papers
NM_001354768.3
p.L75fs
c.223_224fs
1 paper
NM_001354768.3
p.L78insFs
c.233dupT
1 paper
NM_001354768.3
p.W74*
c.222G>A
1 paper
NM_001354768.3
p.W74insFs
c.221_222ins5
1 paper
NM_001354768.3
p.W74*
c.221G>A
1 paper
NM_001354768.3
p.W74R
c.220T>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."