Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.E211V

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.E211V
c.632A>T
Surrounding Variants
1 paper
NM_001354768.3
p.E211K
c.631G>A
1 paper
NM_001354768.3
p.A196_A209ins4
c.586_627dup42
1 paper
NM_001354768.3
p.D213_L214insFs
c.639_640insT
1 paper
NM_001354768.3
p.K216R
c.647A>G
4 papers
NM_001354768.3
p.R218fs
c.652_653fs
8 papers
NM_001354768.3
p.C219fs
c.655_656fs
13 papers
NM_001354768.3
p.R218delFs
c.654delG
3 papers
NM_001354768.3
p.C219fs
c.655_656fs
1 paper
NM_001354768.3
p.R202W
c.604C>T
1 paper
NM_001354768.3
p.R221_L222ins5
c.661_665ins15
1 paper
NM_001354768.3
p.L201P
c.602T>C
4 papers
NM_001354768.3
p.S224_S225insC
c.670_674ins3
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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."