Varaico: Literature-Extracted Genetic Variants

Gene:SNX5
Variant:p.K44N

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.K44N
c.132A>T
Surrounding Variants
1 paper
NM_014426.4
p.K44N
c.132A>C
1 paper
NM_014426.4
p.K46R
c.137A>G
1 paper
NM_014426.4
p.F47I
c.139T>A
1 paper
NM_014426.4
p.T51A
c.151A>G
1 paper
NM_014426.4
p.S30L
c.89C>T
2 papers
NM_014426.4
p.K17_L18Splc
c.52-1G>T
1 paper
NM_014426.4
p.P56L
c.167C>T
1 paper
NM_014426.4
p.T57T
c.171G>C
1 paper
NM_014426.4
p.T57T
c.171G>A
1 paper
NM_014426.4
p.V65I
c.193G>A
1 paper
NM_014426.4
p.E81K
c.241G>A
1 paper
NM_014426.4
p.E81G
c.242A>G
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