Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SNX1

Variant:p.G31R

SNX1

53 papers

RefSeq Summary

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Th...

Pfam Domains

Sorting_nexinaa 10–90UCSCSorting nexin, N-terminal domain

PXaa 173–268UCSCPX domain

Vps5aa 284–517UCSCVps5 C terminal like

Gene Aliases

HGNC Name

sorting nexin 1

HGNC Alias Symbols

SNX1A; MGC8664; HsT17379

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr15:64096104 G>A

NM_003099.5

p.G31R

c.91G>A

Sorting_nexin

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

Surrounding Variants

1 paper

chr15:64096075 T>A

NM_003099.5

p.L21Q

c.62T>A

Sorting_nexin

exact variant not in gnomAD16 overlapping SVs

1 paper

chr15:64096072 G>A

NM_003099.5

p.G20D

c.59G>A

Sorting_nexin

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr15:64096137 G>A

NM_003099.5

p.E42K

c.124G>A

Sorting_nexin

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr15:64096069 C>T

NM_003099.5

p.P19L

c.56C>T

Sorting_nexin

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr15:64096143 G>A

NM_003099.5

p.E44K

c.130G>A

Sorting_nexin

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=3, hom=0)16 overlapping SVs

1 paper

chr15:64096145 G>C

NM_003099.5

p.E44D

c.132G>C

Sorting_nexin

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)16 overlapping SVs

1 paper

chr15:64096047 G>A

NM_003099.5

p.E12K

c.34G>A

Sorting_nexin

Exome: 0.0% (AC=44, hom=0)Genome: 0.0% (AC=6, hom=0)16 overlapping SVs

1 paper

chr15:64096167 G>A

NM_003099.5

p.V52M

c.154G>A

Sorting_nexin

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr15:64096037 T>C

NM_003099.5

p.C8C

c.24T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

2 papers

chr15:64096025 T>TG

NM_003099.5

p.G5insFs

c.14dupG

exact variant not in gnomAD16 overlapping SVs

1 paper

chr15:64096018 C>T

NM_003099.5

p.A2V

c.5C>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."