Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.A263fs

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.A263fs
c.787_788fs
Surrounding Variants
1 paper
NM_001563.4
p.L262L
c.784C>T
1 paper
NM_001563.4
p.S266P
c.796T>C
1 paper
NM_001563.4
p.Q267insFs
c.799_800ins5
1 paper
NM_001563.4
p.Y258*
c.774T>G
1 paper
NM_001563.4
p.Y258*
c.774T>A
1 paper
NM_001563.4
p.Q269*
c.805C>T
5 papers
NM_001563.4
p.Q269_M270Splc
c.807+1G>T
2 papers
NM_001563.4
p.S256C
c.767C>G
2 papers
NM_001563.4
p.Q269_M270Splc
c.807+5G>A
1 paper
NM_001563.4
p.A252T
c.754G>A
1 paper
NM_001563.4
p.L251L
c.753C>T
1 paper
NM_001563.4
p.V243L
c.727G>C
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