Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.M96T

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
8 papers
NM_001354768.3
p.M96T
c.287T>C
Surrounding Variants
1 paper
NM_001354768.3
p.A95S
c.283G>T
1 paper
NM_001354768.3
p.E86G
c.257A>G
1 paper
NM_001354768.3
p.E86*
c.256G>T
1 paper
NM_001354768.3
p.V107I
c.319G>A
1 paper
NM_001354768.3
p.Q81_L82del1
c.242_244delGCT
1 paper
NM_001354768.3
p.H111R
c.332A>G
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.Q80L
c.239A>T
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."