Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.R1088*

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
15 papers
NM_016247.4
p.R1088*
c.3262C>T
Surrounding Variants
1 paper
NM_016247.4
p.C1079fs
c.3235_3236fs
1 paper
NM_016247.4
p.L1127L
c.3381C>T
1 paper
NM_016247.4
p.Q1128delFs
c.3382delG
1 paper
NM_016247.4
p.R1133S
c.3399G>T
1 paper
NM_016247.4
p.R1133S
c.3399G>C
1 paper
NM_016247.4
p.R1136I
c.3407G>T
2 papers
NM_016247.4
p.S1138fs
c.3412_3413fs
1 paper
NM_016247.4
p.S1138insFs
c.3412_3413insAA
1 paper
NM_016247.4
p.Q1146L
c.3437A>T
1 paper
NM_016247.4
p.P1147S
c.3439C>T
1 paper
NM_016247.4
p.D1148N
c.3442G>A
4 papers
NM_016247.4
p.K1158*
c.3472A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."