Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.V142M

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.V142M
c.424G>A
Surrounding Variants
1 paper
NM_001354768.3
p.V142A
c.425T>C
3 papers
NM_001354768.3
p.S139W
c.416C>G
1 paper
NM_001354768.3
p.L145P
c.434T>C
1 paper
NM_001354768.3
p.V138I
c.412G>A
1 paper
NM_001354768.3
p.R147R
c.441G>A
1 paper
NM_001354768.3
p.Q148fs
c.442_443fs
1 paper
NM_001354768.3
p.L149fs
c.445_446fs
2 papers
NM_001354768.3
p.R147_L149del3
c.439_446del9
1 paper
NM_001354768.3
p.L128_R131delFs
c.383_392del10
1 paper
NM_001354768.3
p.R131Q
c.392G>A
1 paper
NM_001354768.3
p.E130V
c.389A>T
4 papers
NM_001354768.3
p.Q148_L149insFs
c.444_445ins8
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