Varaico: Literature-Extracted Genetic Variants

Gene:PHETA1
Variant:p.R210C

PHETA1

26 papers

RefSeq Summary

This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [prov...

Pfam Domains

PHaa 19–113UCSCPH domain

Gene Aliases

HGNC Name

PH domain containing endocytic trafficking adaptor 1

HGNC Previous Symbol

FAM109A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144671.6
p.R210C
c.628C>T
Surrounding Variants
1 paper
NM_144671.6
p.R209H
c.626G>A
1 paper
NM_144671.6
p.R209C
c.625C>T
1 paper
NM_144671.6
p.P199P
c.597T>G
1 paper
NM_144671.6
p.M221T
c.662T>C
2 papers
NM_144671.6
p.G240G
c.720C>G
1 paper
NM_144671.6
p.L146_L148del3
c.436_443del9
1 paper
NM_144671.6
p.P149S
c.445C>T
3 papers
NM_144671.6
p.G133_G135del0
c.397_405del9
1 paper
NM_144671.6
p.V119V
c.357G>A
1 paper
NM_144671.6
p.R117P
c.350G>C
1 paper
NM_144671.6
p.R110H
c.329G>A
1 paper
NM_144671.6
p.T90T
c.270C>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."