Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.S225R

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.S225R
c.675C>A
Surrounding Variants
1 paper
NM_001354768.3
p.S225R
c.675C>G
3 papers
NM_001354768.3
p.S225N
c.674G>A
1 paper
NM_001354768.3
p.S225R
c.673A>C
1 paper
NM_001354768.3
p.G226G
c.678C>T
1 paper
NM_001354768.3
p.S224L
c.671C>T
4 papers
NM_001354768.3
p.S224_S225insC
c.670_674ins3
1 paper
NM_001354768.3
p.G228W
c.682G>T
1 paper
NM_001354768.3
p.R221_L222ins5
c.661_665ins15
3 papers
NM_001354768.3
p.C219fs
c.655_656fs
8 papers
NM_001354768.3
p.C219fs
c.655_656fs
13 papers
NM_001354768.3
p.R218delFs
c.654delG
4 papers
NM_001354768.3
p.R218fs
c.652_653fs
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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."