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

1 paper

NM_014748.4

p.G466R

c.1396G>C

Surrounding Variants

1 paper

NM_014748.4

p.G466R

c.1396G>A

2 papers

NM_014748.4

p.G466E

c.1397G>A

1 paper

NM_014748.4

p.G466A

c.1397G>C

1 paper

NM_014748.4

p.I465L

c.1393A>C

1 paper

NM_014748.4

p.I465V

c.1393A>G

1 paper

NM_014748.4

p.D467A

c.1400A>C

2 papers

NM_014748.4

p.E468A

c.1403A>C

1 paper

NM_014748.4

p.E468G

c.1403A>G

1 paper

NM_014748.4

p.D469A

c.1406A>C

1 paper

NM_014748.4

p.L470V

c.1408C>G

2 papers

NM_014748.4

p.A453P

c.1357G>C

1 paper

NM_014748.4

p.V430I

c.1288G>A