Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.Y715delFs

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.Y715delFs
c.2143delA
Surrounding Variants
1 paper
NM_016247.4
p.Y715fs
c.2143_2144fs
1 paper
NM_016247.4
p.A720T
c.2158G>A
1 paper
NM_016247.4
p.H705fs
c.2113_2114fs
1 paper
NM_016247.4
p.P703H
c.2108C>A
1 paper
NM_016247.4
p.S697_S699del3
c.2089_2096del9
1 paper
NM_016247.4
p.A691E
c.2072C>A
1 paper
NM_016247.4
p.D740Y
c.2218G>T
1 paper
NM_016247.4
p.L743_R744insFs
c.2229_2230insC
1 paper
NM_016247.4
p.A686S
c.2056G>T
1 paper
NM_016247.4
p.R744fs
c.2230_2231fs
1 paper
NM_016247.4
p.E745fs
c.2233_2234fs
1 paper
NM_016247.4
p.E745delFs
c.2233delC
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