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.W206R

c.616T>C

Surrounding Variants

2 papers

NM_014748.4

p.R218Q

c.653G>A

1 paper

NM_014748.4

p.G220D

c.659G>A

1 paper

NM_014748.4

p.R193Q

c.578G>A

1 paper

NM_014748.4

p.E181D

c.543G>T

1 paper

NM_014748.4

p.R177W

c.529C>T

1 paper

NM_014748.4

p.L250P

c.749T>C

1 paper

NM_014748.4

p.G171*

c.511G>T

1 paper

NM_014748.4

p.R166Q

c.497G>A

1 paper

NM_014748.4

p.N132I

c.395A>T

1 paper

NM_014748.4

p.N132Y

c.394A>T

1 paper

NM_014748.4

p.E116V

c.347A>T

2 papers

NM_014748.4

p.R322W

c.964C>T