Varaico: Literature-Extracted Genetic Variants

Gene:PHETA1
Variant:p.M45del1

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
3 papers
NM_144671.6
p.M45del1
c.133_135delCAT
Surrounding Variants
1 paper
NM_144671.6
p.F49_E50del1
c.146_148delCGA
1 paper
NM_144671.6
p.G59S
c.175G>A
1 paper
NM_144671.6
p.P17L
c.50C>T
1 paper
NM_144671.6
p.S7R
c.21C>G
1 paper
NM_144671.6
p.S7R
c.21C>A
1 paper
NM_144671.6
p.S7R
c.19A>C
2 papers
NM_144671.6
p.R6C
c.16C>T
NM_001177996.3
p.R19C
c.55C>T
1 paper
NM_144671.6
p.T90T
c.270C>T
1 paper
NM_144671.6
p.R110H
c.329G>A
1 paper
NM_144671.6
p.R117P
c.350G>C
1 paper
NM_144671.6
p.V119V
c.357G>A
3 papers
NM_144671.6
p.G133_G135del0
c.397_405del9
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