Varaico: Literature-Extracted Genetic Variants

Gene:SNX1
Variant:p.F347F

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
1 paper
NM_003099.5
p.F347F
c.1041T>C
Surrounding Variants
1 paper
NM_003099.5
p.A352P
c.1054G>C
1 paper
NM_003099.5
p.N360D
c.1078A>G
1 paper
NM_003099.5
p.S364L
c.1091C>T
1 paper
NM_003099.5
p.Q369H
c.1107G>C
1 paper
NM_003099.5
p.Q369H
c.1107G>T
1 paper
NM_003099.5
p.E378*
c.1132G>T
1 paper
NM_003099.5
p.Q382R
c.1145A>G
1 paper
NM_003099.5
p.E394K
c.1180G>A
1 paper
NM_003099.5
p.Y399*
c.1197C>A
2 papers
NM_003099.5
p.V406F
c.1216G>T
1 paper
NM_003099.5
p.I300M
c.900C>G
1 paper
NM_003099.5
p.K297*
c.889A>T
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