Varaico: Literature-Extracted Genetic Variants

SNX9

64 papers

RefSeq Summary

This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not co...

Pfam Domains

SH3_2aa 4–60UCSCVariant SH3 domain

PXaa 273–357UCSCPX domain

BAR_3_WASP_bdgaa 358–593UCSCWASP-binding domain of Sorting nexin protein

Gene Aliases

HGNC Name

sorting nexin 9

HGNC Alias Symbols

SH3PX1; SDP1; SH3PXD3A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016224.5

p.K522E

c.1564A>G

Surrounding Variants

1 paper

NM_016224.5

p.K518E

c.1552A>G

1 paper

NM_016224.5

p.I543V

c.1627A>G

2 papers

NM_016224.5

p.K511E

c.1531A>G

1 paper

NM_016224.5

p.G508G

c.1524C>A

1 paper

NM_016224.5

p.R559G

c.1675C>G

1 paper

NM_016224.5

p.R559W

c.1675C>T

1 paper

NM_016224.5

p.E579G

c.1736A>G

1 paper

NM_016224.5

p.T465R

c.1394C>G

1 paper

NM_016224.5

p.E457K

c.1369G>A

1 paper

NM_016224.5

p.T580_I581Splc

c.1741-4T>G

1 paper

NM_016224.5

p.T580_I581Splc

c.1741-1G>C

1 paper

NM_016224.5

p.R591H

c.1772G>A