Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.S6R

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.S6R
c.16A>C
Surrounding Variants
1 paper
NM_001354768.3
p.S6fs
c.16_17fs
3 papers
NM_001354768.3
p.S6delFs
c.16delT
1 paper
NM_001354768.3
p.S6R
c.18C>G
1 paper
NM_001354768.3
p.P5R
c.14C>G
2 papers
NM_001354768.3
p.S6fs
c.16_17fs
1 paper
NM_001354768.3
p.S6R
c.18C>A
1 paper
NM_001354768.3
p.P4L
c.11C>T
2 papers
NM_001354768.3
p.L8fs
c.22_23fs
3 papers
NM_001354768.3
p.L8delFs
c.22delG
1 paper
NM_001354768.3
p.A2delFs
c.6delG
2 papers
NM_001354768.3
p.L8fs
c.22_23fs
3 papers
NM_001354768.3
p.L8delFs
c.23delA
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