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.R395K

c.1184G>A

Surrounding Variants

2 papers

NM_001102575.2

p.T385I

c.1154C>T

1 paper

NM_001102575.2

p.P414S

c.1240C>T

1 paper

NM_001102575.2

p.A370V

c.1109C>T

1 paper

NM_001102575.2

p.A370S

c.1108G>T

1 paper

NM_001102575.2

p.V368M

c.1102G>A

1 paper

NM_001102575.2

p.H366Y

c.1096C>T

1 paper

NM_001102575.2

p.M438T

c.1313T>C

1 paper

NM_001102575.2

p.L335V

c.1003C>G

1 paper

NM_001102575.2

p.G459V

c.1376G>T

1 paper

NM_001102575.2

p.Q465R

c.1394A>G

1 paper

NM_001102575.2

p.G468S

c.1402G>A

1 paper

NM_001102575.2

p.R322H

c.965G>A