Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.R906*

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
13 papers
NM_016247.4
p.R906*
c.2716C>T
Surrounding Variants
1 paper
NM_016247.4
p.R906Q
c.2717G>A
1 paper
NM_016247.4
p.L905P
c.2714T>C
2 papers
NM_016247.4
p.M911del1
c.2731_2732delCAT
1 paper
NM_016247.4
p.L899S
c.2696T>C
1 paper
NM_016247.4
p.D888N
c.2662G>A
1 paper
NM_016247.4
p.Y924C
c.2771A>G
1 paper
NM_016247.4
p.F931L
c.2791T>C
1 paper
NM_016247.4
p.F931L
c.2793C>G
1 paper
NM_016247.4
p.F931L
c.2793C>A
1 paper
NM_016247.4
p.V880M
c.2638G>A
1 paper
NM_016247.4
p.M877I
c.2631G>A
2 papers
NM_016247.4
p.M877L
c.2629A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."