Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.S1187S

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.S1187S
c.3561C>T
Surrounding Variants
1 paper
NM_016247.4
p.Y1183C
c.3548A>G
1 paper
NM_016247.4
p.P1181L
c.3542C>T
1 paper
NM_016247.4
p.E1198*
c.3592G>T
1 paper
NM_016247.4
p.R1200I
c.3599G>T
1 paper
NM_016247.4
p.A1168S
c.3502G>T
1 paper
NM_016247.4
p.E1164G
c.3491A>G
1 paper
NM_016247.4
p.E1164*
c.3490G>T
1 paper
NM_016247.4
p.Y1159C
c.3476A>G
4 papers
NM_016247.4
p.K1158*
c.3472A>T
1 paper
NM_016247.4
p.D1148N
c.3442G>A
1 paper
NM_016247.4
p.P1147S
c.3439C>T
1 paper
NM_016247.4
p.Q1146L
c.3437A>T
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