Varaico: Literature-Extracted Genetic Variants

Gene:SNX5
Variant:p.G112fs

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.G112fs
c.334_335fs
Surrounding Variants
1 paper
NM_014426.4
p.K96E
c.286A>G
2 papers
NM_014426.4
p.E129A
c.386A>C
1 paper
NM_014426.4
p.P92L
c.275C>T
1 paper
NM_014426.4
p.L88F
c.262C>T
1 paper
NM_014426.4
p.E81G
c.242A>G
1 paper
NM_014426.4
p.E81K
c.241G>A
3 papers
NM_014426.4
p.Y132D
c.394T>G
1 paper
NM_014426.4
p.Y132N
c.394T>A
1 paper
NM_014426.4
p.A134T
c.400G>A
1 paper
NM_014426.4
p.T139A
c.415A>G
1 paper
NM_014426.4
p.S141A
c.421T>G
1 paper
NM_014426.4
p.S142A
c.424T>G
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