Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.P973A

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.P973A
c.2917C>G
Surrounding Variants
1 paper
NM_016247.4
p.N976fs
c.2926_2927fs
1 paper
NM_016247.4
p.A978V
c.2933C>T
8 papers
NM_016247.4
p.R964*
c.2890C>T
2 papers
NM_016247.4
p.S963G
c.2887A>G
1 paper
NM_016247.4
p.F986L
c.2956T>C
1 paper
NM_016247.4
p.F986L
c.2958T>G
1 paper
NM_016247.4
p.F986L
c.2958T>A
1 paper
NM_016247.4
p.S958G
c.2872A>G
1 paper
NM_016247.4
p.G957C
c.2869G>T
1 paper
NM_016247.4
p.N956fs
c.2866_2867fs
1 paper
NM_016247.4
p.T944M
c.2831C>T
1 paper
NM_016247.4
p.Y1001*
c.3003C>G
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