Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.E592G

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
1 paper
NM_016247.4
p.E592G
c.1775A>G
Surrounding Variants
1 paper
NM_016247.4
p.K593delFs
c.1779delT
1 paper
NM_016247.4
p.D588V
c.1763A>T
1 paper
NM_016247.4
p.F585F
c.1755C>T
1 paper
NM_016247.4
p.S603*
c.1808C>G
1 paper
NM_016247.4
p.S603*
c.1808C>A
1 paper
NM_016247.4
p.S605F
c.1814C>T
5 papers
NM_016247.4
p.Y560*
c.1680T>G
5 papers
NM_016247.4
p.Y560*
c.1680T>A
1 paper
NM_016247.4
p.P559T
c.1675C>A
2 papers
NM_016247.4
p.P627fs
c.1879_1880fs
1 paper
NM_016247.4
p.A625_P627insFs
c.1875_1879dup5
1 paper
NM_016247.4
p.L628L
c.1884G>A
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