Varaico: Literature-Extracted Genetic Variants

Gene:NRL

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
1–12 of 155 variants
25 papers
NM_001354768.3
p.S50T
c.148T>A
21 papers
NM_001354768.3
p.P51L
c.152C>T
15 papers
NM_001354768.3
p.S50L
c.149C>T
14 papers
NM_001354768.3
p.L160P
c.479T>C
13 papers
NM_001354768.3
p.R218delFs
c.654delG
12 papers
NM_001354768.3
p.S50P
c.148T>C
12 papers
NM_001354768.3
p.R170S
c.508C>A
11 papers
NM_001354768.3
p.P51S
c.151C>T
11 papers
NM_001354768.3
p.G122E
c.365G>A
10 papers
NM_001354768.3
p.R31*
c.91C>T
10 papers
NM_001354768.3
p.L75insFs
c.224_225insC
10 papers
NM_001354768.3
p.L75fs
c.223_224fs
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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."