Varaico: Literature-Extracted Genetic Variants

Gene:SNX5
Variant:p.Y220*

SNX5

42 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

PXaa 55–169UCSCPX domain
Vps5aa 179–398UCSCVps5 C terminal like

Gene Aliases

HGNC Name

sorting nexin 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014426.4
p.Y220*
c.660C>G
Surrounding Variants
1 paper
NM_014426.4
p.Y220*
c.660C>A
1 paper
NM_014426.4
p.K224E
c.670A>G
1 paper
NM_014426.4
p.S226A
c.676T>G
1 paper
NM_014426.4
p.S236F
c.707C>T
1 paper
NM_014426.4
p.E204fs
c.610_611fs
1 paper
NM_014426.4
p.N239Splc
c.716-39G>T
1 paper
NM_014426.4
p.D195G
c.584A>G
3 papers
NM_014426.4
p.E181E
c.543G>A
1 paper
NM_014426.4
p.E280A
c.839A>C
1 paper
NM_014426.4
p.T292S
c.874A>T
1 paper
NM_014426.4
p.L300L
c.900C>G
1 paper
NM_014426.4
p.D171A
c.512A>C
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