Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.S522*

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.S522*
c.1565C>A
Surrounding Variants
1 paper
NM_016247.4
p.S522*
c.1565C>G
1 paper
NM_016247.4
p.S527fs
c.1579_1580fs
4 papers
NM_016247.4
p.I528V
c.1582A>G
2 papers
NM_016247.4
p.L526_S527delFs
c.1578_1581del4
6 papers
NM_016247.4
p.S530*
c.1589C>G
7 papers
NM_016247.4
p.S530*
c.1589C>A
1 paper
NM_016247.4
p.Q538*
c.1612C>T
3 papers
NM_016247.4
p.V553fs
c.1657_1658fs
2 papers
NM_016247.4
p.V553delFs
c.1658delA
1 paper
NM_016247.4
p.P559T
c.1675C>A
5 papers
NM_016247.4
p.Y560*
c.1680T>G
5 papers
NM_016247.4
p.Y560*
c.1680T>A
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