Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.Y171*

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
8 papers
NM_016247.4
p.Y171*
c.513T>A
Surrounding Variants
8 papers
NM_016247.4
p.Y171*
c.513T>G
1 paper
NM_016247.4
p.A172A
c.516A>C
1 paper
NM_016247.4
p.L169L
c.507G>A
1 paper
NM_016247.4
p.S178N
c.533G>A
1 paper
NM_016247.4
p.S178Splc
c.533+1626C>A
1 paper
NM_016247.4
p.K167_K168Splc
c.502-2740T>G
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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."