Varaico: Literature-Extracted Genetic Variants

Gene:IMPG2
Variant:p.M655fs

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.M655fs
c.1963_1964fs
Surrounding Variants
1 paper
NM_016247.4
p.M655delFs
c.1963delT
1 paper
NM_016247.4
p.E645_D646del2
c.1933_1937del6
1 paper
NM_016247.4
p.E645_D646delFs
c.1935_1936delCT
1 paper
NM_016247.4
p.E668K
c.2002G>A
1 paper
NM_016247.4
p.H669N
c.2005C>A
8 papers
NM_016247.4
p.T674I
c.2021C>T
1 paper
NM_016247.4
p.H675N
c.2023C>A
1 paper
NM_016247.4
p.H675delFs
c.2025delG
1 paper
NM_016247.4
p.P677S
c.2029C>T
1 paper
NM_016247.4
p.E680*
c.2038G>T
1 paper
NM_016247.4
p.E680delFs
c.2038delC
1 paper
NM_016247.4
p.L628L
c.1884G>A
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