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.P388S

c.1162C>T

Surrounding Variants

1 paper

NM_016224.5

p.L392I

c.1174T>A

1 paper

NM_016224.5

p.I379fs

c.1135_1136fs

1 paper

NM_016224.5

p.K366E

c.1096A>G

1 paper

NM_016224.5

p.E400K

c.1198G>A

1 paper

NM_016224.5

p.T418M

c.1253C>T

1 paper

NM_016224.5

p.K433E

c.1297A>G

1 paper

NM_016224.5

p.E359A

c.1076A>C

1 paper

NM_016224.5

p.R357Q

c.1070G>A

1 paper

NM_016224.5

p.E346K

c.1036G>A

1 paper

NM_016224.5

p.S345*

c.1034C>A

1 paper

NM_016224.5

p.S345*

c.1034C>G

1 paper

NM_016224.5

p.P342L

c.1025C>T