Varaico: Literature-Extracted Genetic Variants

SNX17

40 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 23–105UCSCPX domain

SNX17-27-31_F1_FERMaa 117–206UCSCSortin nexin 17/27/31, FERM domain, F1 lobe

SNX17-31_F2_FERMaa 207–267UCSCSortin nexin 17/31, FERM domain, F2 lobe

SNX17_FERM_Caa 270–384UCSCSorting Nexin 17 FERM C-terminal domain

Gene Aliases

HGNC Name

sorting nexin 17

HGNC Alias Symbol

KIAA0064

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014748.4

p.N24H

c.70A>C

Surrounding Variants

1 paper

NM_014748.4

p.V27L

c.79G>C

1 paper

NM_014748.4

p.V27L

c.79G>T

1 paper

NM_014748.4

p.L40L

c.120C>T

1 paper

NM_014748.4

p.Y20Y

c.60C>T

1 paper

NM_014748.4

p.A19V

c.56C>T

1 paper

NM_014748.4

p.D14N

c.40G>A

1 paper

NM_014748.4

p.R11H

c.32G>A

1 paper

NM_014748.4

p.G52R

c.154G>A

1 paper

NM_014748.4

p.G52R

c.154G>C

1 paper

NM_014748.4

p.P60L

c.179C>T

1 paper

NM_014748.4

p.V72I

c.214G>A

1 paper

NM_014748.4

p.D89N

c.265G>A