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

1–12 of 56 variants

3 papers

NM_014748.4

p.N24H

c.70A>C

3 papers

NM_014748.4

p.V380D

c.1139T>A

2 papers

NM_014748.4

p.D89Y

c.265G>T

2 papers

NM_014748.4

p.E96K

c.286G>A

2 papers

NM_014748.4

p.R218Q

c.653G>A

2 papers

NM_014748.4

p.R322W

c.964C>T

2 papers

NM_014748.4

p.A412V

c.1235C>T

2 papers

NM_014748.4

p.A453P

c.1357G>C

2 papers

NM_014748.4

p.G466E

c.1397G>A

2 papers

NM_014748.4

p.E468A

c.1403A>C

1 paper

NM_014748.4

p.R11H

c.32G>A

1 paper

NM_014748.4

p.D14N

c.40G>A