Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.W809*

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.W809*
c.2427G>A
Surrounding Variants
2 papers
NM_016247.4
p.W809*
c.2426G>A
1 paper
NM_016247.4
p.S811A
c.2431T>G
1 paper
NM_016247.4
p.R807K
c.2420G>A
2 papers
NM_016247.4
p.S804_A805delFs
c.2412_2413delCA
1 paper
NM_016247.4
p.T801delFs
c.2402delG
1 paper
NM_016247.4
p.D796N
c.2386G>A
1 paper
NM_016247.4
p.S794P
c.2380T>C
1 paper
NM_016247.4
p.D829N
c.2485G>A
2 papers
NM_016247.4
p.G834D
c.2501G>A
1 paper
NM_016247.4
p.R782_V783del2
c.2344_2348del6
4 papers
NM_016247.4
p.R782_V783delFs
c.2346_2347delCT
4 papers
NM_016247.4
p.R782fs
c.2344_2345fs
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