Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.D326Y

IMPG1

150 papers

RefSeq Summary

This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photore...

Pfam Domains

SEAaa 234–324UCSCSEA domain
SEAaa 573–673UCSCSEA domain

Gene Aliases

HGNC Name

interphotoreceptor matrix proteoglycan 1

HGNC Previous Symbol

SPACR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001563.4
p.D326Y
c.976G>T
Surrounding Variants
1 paper
NM_001563.4
p.D321delFs
c.963delG
1 paper
NM_001563.4
p.S320R
c.960T>G
1 paper
NM_001563.4
p.S320R
c.960T>A
1 paper
NM_001563.4
p.S320R
c.958A>C
1 paper
NM_001563.4
p.E333*
c.997G>T
1 paper
NM_001563.4
p.P318T
c.952C>A
1 paper
NM_001563.4
p.E314K
c.940G>A
1 paper
NM_001563.4
p.H311L
c.932A>T
1 paper
NM_001563.4
p.I307V
c.919A>G
1 paper
NM_001563.4
p.T305M
c.914C>T
1 paper
NM_001563.4
p.S297L
c.890C>T
1 paper
NM_001563.4
p.G372_Q375delFs
c.1115_1125del11
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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."