Varaico: Literature-Extracted Genetic Variants

Gene:SNX1
Variant:p.E132K

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003099.5
p.E132K
c.394G>A
Surrounding Variants
1 paper
NM_003099.5
p.N123K
c.369T>A
1 paper
NM_003099.5
p.N123K
c.369T>G
1 paper
NM_003099.5
p.P117S
c.349C>T
1 paper
NM_003099.5
p.T112I
c.335C>T
1 paper
NM_003099.5
p.N103K
c.309T>A
1 paper
NM_003099.5
p.T101I
c.302C>T
1 paper
NM_003099.5
p.V94M
c.280G>A
1 paper
NM_003099.5
p.E138Q
c.412G>C
1 paper
NM_003099.5
p.F143C
c.428T>G
1 paper
NM_003099.5
p.I149V
c.445A>G
1 paper
NM_003099.5
p.E84K
c.250G>A
1 paper
NM_003099.5
p.G71A
c.212G>C
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