Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.S47T

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.S47T
c.140G>C
Surrounding Variants
1 paper
NM_001563.4
p.M51insFs
c.151dupA
1 paper
NM_001563.4
p.M51I
c.153G>T
1 paper
NM_001563.4
p.M51I
c.153G>C
1 paper
NM_001563.4
p.M51I
c.153G>A
1 paper
NM_001563.4
p.M54T
c.161T>C
4 papers
NM_001563.4
p.R58K
c.173G>A
1 paper
NM_001563.4
p.R59*
c.175C>T
2 papers
NM_001563.4
p.R59Q
c.176G>A
1 paper
NM_001563.4
p.K34delFs
c.102delT
1 paper
NM_001563.4
p.D35fs
c.103_104fs
1 paper
NM_001563.4
p.R67*
c.199C>T
1 paper
NM_001563.4
p.S71insFs
c.212_213insA
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