Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.E779K

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.E779K
c.2335G>A
Surrounding Variants
1 paper
NM_016247.4
p.L777_E779delFs
c.2330_2336del7
4 papers
NM_016247.4
p.R782fs
c.2344_2345fs
4 papers
NM_016247.4
p.R782_V783delFs
c.2346_2347delCT
1 paper
NM_016247.4
p.W774*
c.2322G>A
1 paper
NM_016247.4
p.R782_V783del2
c.2344_2348del6
1 paper
NM_016247.4
p.T772N
c.2315C>A
1 paper
NM_016247.4
p.S794P
c.2380T>C
1 paper
NM_016247.4
p.E762D
c.2286G>T
1 paper
NM_016247.4
p.E762D
c.2286G>C
1 paper
NM_016247.4
p.D796N
c.2386G>A
1 paper
NM_016247.4
p.D760G
c.2279A>G
1 paper
NM_016247.4
p.F759V
c.2275T>G
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