Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.R661C

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
2 papers
NM_001563.4
p.R661C
c.1981C>T
Surrounding Variants
2 papers
NM_001563.4
p.R661H
c.1982G>A
1 paper
NM_001282368.2
p.L579S
c.1736T>C
1 paper
NM_001563.4
p.L668F
c.2002C>T
1 paper
NM_001563.4
p.H669N
c.2005C>A
4 papers
NM_001563.4
p.L649F
c.1945C>T
2 papers
NM_001563.4
p.S676F
c.2027C>T
1 paper
NM_001563.4
p.N678fs
c.2032_2033fs
1 paper
NM_001563.4
p.L677_N678delFs
c.2031_2032delTG
1 paper
NM_001563.4
p.A642P
c.1924G>C
1 paper
NM_001563.4
p.P681T
c.2041C>A
1 paper
NM_001563.4
p.V633M
c.1897G>A
1 paper
NM_001563.4
p.S632R
c.1896T>G
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