Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.F759V

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.F759V
c.2275T>G
Surrounding Variants
12 papers
NM_016247.4
p.W758*
c.2274G>A
10 papers
NM_016247.4
p.W758*
c.2273G>A
1 paper
NM_016247.4
p.D760G
c.2279A>G
1 paper
NM_016247.4
p.Y756C
c.2267A>G
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.T772N
c.2315C>A
1 paper
NM_016247.4
p.E745delFs
c.2233delC
1 paper
NM_016247.4
p.E745fs
c.2233_2234fs
1 paper
NM_016247.4
p.R744fs
c.2230_2231fs
1 paper
NM_016247.4
p.L743_R744insFs
c.2229_2230insC
1 paper
NM_016247.4
p.W774*
c.2322G>A
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