Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.P43H

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.P43H
c.128C>A
Surrounding Variants
6 papers
NM_001354768.3
p.P49L
c.146C>T
1 paper
NM_001354768.3
p.A37D
c.110C>A
1 paper
NM_001354768.3
p.S50A
c.148T>G
12 papers
NM_001354768.3
p.S50P
c.148T>C
25 papers
NM_001354768.3
p.S50T
c.148T>A
2 papers
NM_001354768.3
p.T36fs
c.106_107fs
15 papers
NM_001354768.3
p.S50L
c.149C>T
3 papers
NM_001354768.3
p.P49_S50del1
c.147_149delGAA
1 paper
NM_001354768.3
p.T36fs
c.106_107fs
2 papers
NM_001354768.3
p.P35insFs
c.104dupC
11 papers
NM_001354768.3
p.P51S
c.151C>T
2 papers
NM_001354768.3
p.P51A
c.151C>G
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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."