Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.R131C

IMPG2

244 papers

RefSeq Summary

The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote t...

Pfam Domains

SEAaa 241–338UCSCSEA domain
SEAaa 899–999UCSCSEA domain

Gene Aliases

HGNC Name

interphotoreceptor matrix proteoglycan 2

HGNC Alias Symbols

IPM200; RP56; SPACRCAN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016247.4
p.R131C
c.391C>T
Surrounding Variants
2 papers
NM_016247.4
p.R131H
c.392G>A
1 paper
NM_016247.4
p.R127delFs
c.381delT
3 papers
NM_016247.4
p.R127P
c.380G>C
4 papers
NM_016247.4
p.R127*
c.379C>T
1 paper
NM_016247.4
p.Y136C
c.407A>G
1 paper
NM_016247.4
p.F124delFs
c.371delA
1 paper
NM_016247.4
p.Y136*
c.408C>G
1 paper
NM_016247.4
p.Y136*
c.408C>A
11 papers
NM_016247.4
p.F124L
c.372T>G
11 papers
NM_016247.4
p.F124L
c.372T>A
4 papers
NM_016247.4
p.W137*
c.410G>A
3 papers
NM_016247.4
p.W137*
c.411G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."