Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.Q80L

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.Q80L
c.239A>T
Surrounding Variants
1 paper
NM_001354768.3
p.Q80R
c.239A>G
1 paper
NM_001354768.3
p.T77_Q79delFs
c.230_237del8
5 papers
NM_001354768.3
p.Q80*
c.238C>T
1 paper
NM_001354768.3
p.L78insFs
c.233dupT
1 paper
NM_001354768.3
p.Q81_L82del1
c.242_244delGCT
1 paper
NM_001354768.3
p.A76fs
c.226_227fs
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
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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."