Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.T36fs

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.T36fs
c.106_107fs
Surrounding Variants
2 papers
NM_001354768.3
p.P35insFs
c.104dupC
2 papers
NM_001354768.3
p.T36fs
c.106_107fs
1 paper
NM_001354768.3
p.P35A
c.103C>G
1 paper
NM_001354768.3
p.P35T
c.103C>A
1 paper
NM_001354768.3
p.A37D
c.110C>A
10 papers
NM_001354768.3
p.R31*
c.91C>T
1 paper
NM_001354768.3
p.P43H
c.128C>A
1 paper
NM_001354768.3
p.E26D
c.78A>T
1 paper
NM_001354768.3
p.R25fs
c.73_74fs
1 paper
NM_001354768.3
p.R25W
c.73C>T
1 paper
NM_001354768.3
p.K24M
c.71A>T
1 paper
NM_001354768.3
p.K24R
c.71A>G
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