Varaico: Literature-Extracted Genetic Variants

Gene:REPS2
Variant:p.S217N

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.S217N
c.650G>A
Surrounding Variants
1 paper
NM_004726.3
p.L134L
c.402G>A
1 paper
NM_004726.3
p.L134F
c.402G>C
1 paper
NM_004726.3
p.L134F
c.402G>T
1 paper
NM_004726.3
p.P248S
c.742C>T
1 paper
NM_004726.3
p.S254P
c.760T>C
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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."