Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.L18M

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.L18M
c.52T>A
Surrounding Variants
2 papers
NM_001354768.3
p.L18delFs
c.54delC
1 paper
NM_001354768.3
p.M19K
c.56T>A
1 paper
NM_001354768.3
p.D15D
c.45C>T
1 paper
NM_001354768.3
p.K20R
c.59A>G
1 paper
NM_001354768.3
p.E22Q
c.64G>C
1 paper
NM_001354768.3
p.K24M
c.71A>T
1 paper
NM_001354768.3
p.K24R
c.71A>G
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.E26D
c.78A>T
2 papers
NM_001354768.3
p.L8fs
c.22_23fs
3 papers
NM_001354768.3
p.L8delFs
c.23delA
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