Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.Y96F

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.Y96F
c.287A>T
Surrounding Variants
1 paper
NM_001563.4
p.R98I
c.293G>T
1 paper
NM_001563.4
p.L93I
c.277C>A
1 paper
NM_001563.4
p.S92N
c.275G>A
1 paper
NM_001563.4
p.V80V
c.240C>A
1 paper
NM_001563.4
p.T76K
c.227C>A
1 paper
NM_001563.4
p.F74L
c.220T>C
1 paper
NM_001563.4
p.F73insFs
c.217_218insG
1 paper
NM_001563.4
p.F73fs
c.217_218fs
1 paper
NM_001563.4
p.S71insFs
c.212_213insA
1 paper
NM_001563.4
p.R67*
c.199C>T
2 papers
NM_001563.4
p.R59Q
c.176G>A
1 paper
NM_001563.4
p.R59*
c.175C>T
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