Varaico: Literature-Extracted Genetic Variants

Gene:SNX6
Variant:p.E132K

SNX6

32 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 56–170UCSCPX domain
PXaa 68–182UCSCPX domain
Vps5aa 184–399UCSCVps5 C terminal like

Gene Aliases

HGNC Name

sorting nexin 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152233.4
p.E132K
c.394G>A
Surrounding Variants
1 paper
NM_152233.4
p.V141D
c.422T>A
1 paper
NM_152233.4
p.R158S
c.474A>T
1 paper
NM_152233.4
p.R158S
c.474A>C
1 paper
NM_152233.4
p.Y169_N170delFs
c.507_508delTA
1 paper
NM_152233.4
p.P98R
c.293C>G
1 paper
NM_152233.4
p.R97K
c.290G>A
1 paper
NM_152233.4
p.A94T
c.280G>A
1 paper
NM_152233.4
p.V81I
c.241G>A
1 paper
NM_152233.4
p.E72K
c.214G>A
1 paper
NM_152233.4
p.H70_E71insFs
c.210_211insA
2 papers
NM_152233.4
p.Q69L
c.206A>T
1 paper
NM_152233.4
p.V66F
c.196G>T
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