Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.H161Y

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.H161Y
c.481C>T
Surrounding Variants
1 paper
NM_016247.4
p.E160*
c.478G>T
1 paper
NM_016247.4
p.V159_E160insTAA
c.475_479ins9
1 paper
NM_016247.4
p.M166_K167delFs
c.498_499delTC
1 paper
NM_016247.4
p.G152A
c.455G>C
1 paper
NM_016247.4
p.G152D
c.455G>A
1 paper
NM_016247.4
p.E150K
c.448G>A
1 paper
NM_016247.4
p.D143delFs
c.428delT
1 paper
NM_016247.4
p.D143fs
c.427_428fs
1 paper
NM_016247.4
p.D143N
c.427G>A
1 paper
NM_016247.4
p.N139S
c.416A>G
1 paper
NM_016247.4
p.N139D
c.415A>G
1 paper
NM_016247.4
p.M138V
c.412A>G
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