Varaico: Literature-Extracted Genetic Variants

Gene:SNX7
Variant:p.S239S

SNX7

43 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 60–147UCSCPX domain
PXaa 60–147UCSCPX domain
PXaa 124–207UCSCPX domain

Gene Aliases

HGNC Name

sorting nexin 7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015976.5
p.S239S
c.717A>G
Surrounding Variants
1 paper
NM_015976.5
p.R246C
c.736C>T
1 paper
NM_015976.5
p.M251V
c.751A>G
1 paper
NM_015976.5
p.P223A
c.667C>G
1 paper
NM_015976.5
p.P223S
c.667C>T
1 paper
NM_015976.5
p.L215L
c.645C>G
1 paper
NM_015976.5
p.R273I
c.818G>T
1 paper
NM_015976.5
p.W295L
c.884G>T
1 paper
NM_015976.5
p.D308N
c.922G>A
1 paper
NM_015976.5
p.C316Fs
c.946_947delinsAFs
1 paper
NM_015976.5
p.R323Q
c.968G>A
1 paper
NM_015976.5
p.G326A
c.977G>C
1 paper
NM_015976.5
p.V334I
c.1000G>A
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