Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.S50P

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
12 papers
NM_001354768.3
p.S50P
c.148T>C
Surrounding Variants
1 paper
NM_001354768.3
p.S50A
c.148T>G
25 papers
NM_001354768.3
p.S50T
c.148T>A
15 papers
NM_001354768.3
p.S50L
c.149C>T
6 papers
NM_001354768.3
p.P49L
c.146C>T
3 papers
NM_001354768.3
p.P49_S50del1
c.147_149delGAA
11 papers
NM_001354768.3
p.P51S
c.151C>T
2 papers
NM_001354768.3
p.P51A
c.151C>G
8 papers
NM_001354768.3
p.P51T
c.151C>A
4 papers
NM_001354768.3
p.S50del1
c.148_149delTGA
21 papers
NM_001354768.3
p.P51L
c.152C>T
2 papers
NM_001354768.3
p.P51R
c.152C>G
2 papers
NM_001354768.3
p.P51H
c.152C>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."