Varaico: Literature-Extracted Genetic Variants

Gene:UNC119

UNC119

60 papers

RefSeq Summary

This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans...

Pfam Domains

GMP_PDE_deltaaa 80–236UCSCGMP-PDE, delta subunit

Gene Aliases

HGNC Name

unc-119 lipid binding chaperone

HGNC Alias Symbols

HRG4; POC7; POC7A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
5 papers
NM_005148.4
p.G22V
c.65G>T
5 papers
NM_005148.4
p.D87N
c.259G>A
4 papers
NM_005148.4
p.K57*
c.169A>T
3 papers
NM_005148.4
p.V3delFs
c.7delC
2 papers
NM_005148.4
p.S200Y
c.599C>A
2 papers
NM_005148.4
p.E201*
c.601G>T
1 paper
NM_005148.4
p.M1T
c.2T>C
1 paper
NM_005148.4
p.A13V
c.38C>T
1 paper
NM_005148.4
p.S21P
c.61T>C
1 paper
NM_005148.4
p.S21L
c.62C>T
1 paper
NM_005148.4
p.A45S
c.133G>T
1 paper
NM_005148.4
p.G46C
c.136G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."