Varaico: Literature-Extracted Genetic Variants

Gene:REPS2
Variant:p.I127R

REPS2

31 papers

RefSeq Summary

The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions ...

Pfam Domains

EHaa 63–146UCSCEH domain
EHaa 278–373UCSCEH domain

Gene Aliases

HGNC Name

RALBP1 associated Eps domain containing 2

HGNC Alias Symbol

POB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004726.3
p.I127R
c.380T>G
Surrounding Variants
1 paper
NM_004726.3
p.R126W
c.376C>T
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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."