Varaico: Literature-Extracted Genetic Variants

SNX18

33 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

SH3_9aa 7–57UCSCVariant SH3 domain

PXaa 300–382UCSCPX domain

BAR_3_WASP_bdgaa 386–549UCSCWASP-binding domain of Sorting nexin protein

Gene Aliases

HGNC Name

sorting nexin 18

HGNC Previous Symbol

SNAG1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

2 papers

NM_001102575.2

p.D34N

c.100G>A

2 papers

NM_001102575.2

p.T385I

c.1154C>T

1 paper

NM_001102575.2

p.E18V

c.53A>T

1 paper

NM_001102575.2

p.G46D

c.137G>A

1 paper

NM_001102575.2

p.A53T

c.157G>A

1 paper

NM_001102575.2

p.A53D

c.158C>A

1 paper

NM_001102575.2

p.A74A

c.222C>T

1 paper

NM_001102575.2

p.P93S

c.277C>T

1 paper

NM_001102575.2

p.P137S

c.409C>T

1 paper

NM_001102575.2

p.S162F

c.485C>T

1 paper

NM_001102575.2

p.A185fs

c.553_554fs

1 paper

NM_001102575.2

p.R194S

c.580C>A