Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.G122E

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
11 papers
NM_001354768.3
p.G122E
c.365G>A
Surrounding Variants
1 paper
NM_001354768.3
p.T121I
c.362C>T
1 paper
NM_001354768.3
p.G122_A123del1
c.366_368delGCT
2 papers
NM_001354768.3
p.H125Q
c.375C>G
2 papers
NM_001354768.3
p.H125Q
c.375C>A
2 papers
NM_001354768.3
p.P118insFs
c.353_354insC
1 paper
NM_001354768.3
p.P118S
c.352C>T
9 papers
NM_001354768.3
p.Y113*
c.339C>G
6 papers
NM_001354768.3
p.Y113*
c.339C>A
1 paper
NM_001354768.3
p.G112S
c.334G>A
1 paper
NM_001354768.3
p.P106_H111del6
c.316_332del18
1 paper
NM_001354768.3
p.H111R
c.332A>G
1 paper
NM_001354768.3
p.V107I
c.319G>A
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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."