Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.W126*

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
3 papers
NM_001563.4
p.W126*
c.377G>A
Surrounding Variants
3 papers
NM_001563.4
p.W126*
c.378G>A
1 paper
NM_001563.4
p.Q124delFs
c.371delT
1 paper
NM_001563.4
p.E122D
c.366A>T
1 paper
NM_001563.4
p.E122D
c.366A>C
1 paper
NM_001563.4
p.Q131*
c.391C>T
1 paper
NM_001563.4
p.S128_Q131delFs
c.383_392del10
1 paper
NM_001563.4
p.I117S
c.350T>G
1 paper
NM_001282368.2
p.F60L
c.178T>C
1 paper
NM_001563.4
p.L114P
c.341T>C
1 paper
NM_001282368.2
p.F60L
c.180T>G
1 paper
NM_001282368.2
p.F60L
c.180T>A
1 paper
NM_001563.4
p.V106_R111del6
c.316_332del18
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