Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.A567V

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.A567V
c.1700C>T
Surrounding Variants
4 papers
NM_001563.4
p.K569R
c.1706A>G
1 paper
NM_001563.4
p.R571*
c.1711C>T
11 papers
NM_001563.4
p.L579P
c.1736T>C
4 papers
NM_001563.4
p.R580C
c.1738C>T
1 paper
NM_001563.4
p.N588H
c.1762A>C
1 paper
NM_001563.4
p.L536F
c.1606C>T
1 paper
NM_001563.4
p.R599G
c.1795C>G
1 paper
NM_001563.4
p.E532Q
c.1594G>C
1 paper
NM_001563.4
p.L608P
c.1823T>C
8 papers
NM_001563.4
p.L608_L609Splc
c.1824+1G>A
1 paper
NM_001563.4
p.H518D
c.1552C>G
2 papers
NM_001563.4
p.M515insFs
c.1543_1544dupAT
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