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

Selected Variant

1 paper

NM_001102575.2

p.G255G

c.765G>A

Surrounding Variants

1 paper

NM_001102575.2

p.D256N

c.766G>A

1 paper

NM_001102575.2

p.G255V

c.764G>T

1 paper

NM_001102575.2

p.E271G

c.812A>G

1 paper

NM_001102575.2

p.P275T

c.823C>A

1 paper

NM_001102575.2

p.P275P

c.825G>A

1 paper

NM_001102575.2

p.I280V

c.838A>G

1 paper

NM_001102575.2

p.S209S

c.627G>A

1 paper

NM_001102575.2

p.T305M

c.914C>T

1 paper

NM_001102575.2

p.R194S

c.580C>A

1 paper

NM_001102575.2

p.R322H

c.965G>A

1 paper

NM_001102575.2

p.A185fs

c.553_554fs

1 paper

NM_001102575.2

p.L335V

c.1003C>G