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

1–12 of 45 variants

2 papers

NM_016224.5

p.D180N

c.538G>A

2 papers

NM_016224.5

p.K511E

c.1531A>G

1 paper

NM_016224.5

p.T31fs

c.91_92fs

1 paper

NM_016224.5

p.Q67E

c.199C>G

1 paper

NM_016224.5

p.Q77L

c.230A>T

1 paper

NM_016224.5

p.N105S

c.314A>G

1 paper

NM_016224.5

p.W108S

c.323G>C

1 paper

NM_016224.5

p.P129L

c.386C>T

1 paper

NM_016224.5

p.Q152K

c.454C>A

1 paper

NM_016224.5

p.Q152L

c.455A>T

1 paper

NM_016224.5

p.W165S

c.494G>C

1 paper

NM_016224.5

p.W169S

c.506G>C