Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.R159insFs

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.R159insFs
c.477dupG
Surrounding Variants
1 paper
NM_001354768.3
p.G153_R159insFs
c.459_477dup19
1 paper
NM_001354768.3
p.L160R
c.479T>G
14 papers
NM_001354768.3
p.L160P
c.479T>C
1 paper
NM_001354768.3
p.L160fs
c.478_479fs
1 paper
NM_001354768.3
p.K161R
c.482A>G
1 paper
NM_001354768.3
p.L158R
c.473T>G
1 paper
NM_001354768.3
p.R163K
c.488G>A
1 paper
NM_001354768.3
p.E156V
c.467A>T
4 papers
NM_001354768.3
p.Q148_L149insFs
c.444_445ins8
1 paper
NM_001354768.3
p.L167M
c.499C>A
1 paper
NM_001354768.3
p.K168R
c.503A>G
2 papers
NM_001354768.3
p.R147_L149del3
c.439_446del9
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