Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.A510delFs

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.A510delFs
c.1530delT
Surrounding Variants
1 paper
NM_001563.4
p.G511fs
c.1531_1532fs
1 paper
NM_001563.4
p.D514H
c.1540G>C
1 paper
NM_001563.4
p.M515fs
c.1543_1544fs
3 papers
NM_001563.4
p.R507*
c.1519C>T
2 papers
NM_001563.4
p.M515insFs
c.1543_1544dupAT
1 paper
NM_001563.4
p.H518D
c.1552C>G
1 paper
NM_001563.4
p.E532Q
c.1594G>C
1 paper
NM_001563.4
p.L536F
c.1606C>T
2 papers
NM_001563.4
p.G463delFs
c.1388delC
2 papers
NM_001563.4
p.G463fs
c.1387_1388fs
1 paper
NM_001563.4
p.A567V
c.1700C>T
4 papers
NM_001563.4
p.K569R
c.1706A>G
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