Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.K179R

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.K179R
c.536A>G
Surrounding Variants
1 paper
NM_001354768.3
p.R180L
c.539G>T
1 paper
NM_001354768.3
p.R177S
c.529C>A
6 papers
NM_001354768.3
p.Q182*
c.544C>T
1 paper
NM_001354768.3
p.Q174K
c.520C>A
12 papers
NM_001354768.3
p.R170S
c.508C>A
1 paper
NM_001354768.3
p.E190K
c.568G>A
1 paper
NM_001354768.3
p.K168R
c.503A>G
1 paper
NM_001354768.3
p.L167M
c.499C>A
1 paper
NM_001354768.3
p.R193S
c.577C>A
1 paper
NM_001354768.3
p.R163K
c.488G>A
1 paper
NM_001354768.3
p.K161R
c.482A>G
1 paper
NM_001354768.3
p.Q197P
c.590A>C
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."