Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.V240D

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
1 paper
NM_001563.4
p.V240D
c.719T>A
Surrounding Variants
2 papers
NM_001563.4
p.V240I
c.718G>A
5 papers
NM_001563.4
p.L238R
c.713T>G
1 paper
NM_001563.4
p.L238P
c.713T>C
1 paper
NM_001563.4
p.V243L
c.727G>C
1 paper
NM_001563.4
p.V243I
c.727G>A
1 paper
NM_001563.4
p.E233del1
c.697_698delCTC
1 paper
NM_001563.4
p.L251L
c.753C>T
1 paper
NM_001563.4
p.A252T
c.754G>A
2 papers
NM_001563.4
p.R224delFs
c.672delT
1 paper
NM_001563.4
p.E225fs
c.673_674fs
2 papers
NM_001563.4
p.S256C
c.767C>G
1 paper
NM_001563.4
p.Y258*
c.774T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."