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.V380A

c.1139T>C

Surrounding Variants

3 papers

NM_014748.4

p.V380D

c.1139T>A

1 paper

NM_014748.4

p.Q368_A369Splc

c.1104+9C>T

1 paper

NM_014748.4

p.T403I

c.1208C>T

1 paper

NM_014748.4

p.D357A

c.1070A>C

1 paper

NM_014748.4

p.D408A

c.1223A>C

1 paper

NM_014748.4

p.L353delFs

c.1057delC

2 papers

NM_014748.4

p.A412V

c.1235C>T

1 paper

NM_014748.4

p.E347K

c.1039G>A

1 paper

NM_014748.4

p.V344A

c.1031T>C

1 paper

NM_014748.4

p.R426Q

c.1277G>A

1 paper

NM_014748.4

p.R426L

c.1277G>T

1 paper

NM_014748.4

p.V430I

c.1288G>A