Varaico: Literature-Extracted Genetic Variants

SNX14

86 papers

RefSeq Summary

This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also ...

Pfam Domains

PXAaa 130–299UCSCPXA domain

RGSaa 336–467UCSCRegulator of G protein signaling domain

PXaa 602–685UCSCPX domain

Nexin_Caa 806–910UCSCSorting nexin C terminal

Gene Aliases

HGNC Name

sorting nexin 14

HGNC Alias Symbol

RGS-PX2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_153816.6

p.Q866*

c.2596C>T

Surrounding Variants

1 paper

NM_153816.6

p.D885Splc

c.2653+1G>A

1 paper

NM_153816.6

p.T822I

c.2465C>T

1 paper

NM_153816.6

p.V804I

c.2410G>A

1 paper

NM_153816.6

p.R799W

c.2395C>T

2 papers

NM_153816.6

p.V797G

c.2390T>G

1 paper

NM_153816.6

p.E788G

c.2363A>G

1 paper

NM_153816.6

p.V787I

c.2359G>A

2 papers

NM_153816.6

p.E773_R774delFs

c.2319_2322del4

2 papers

NM_153816.6

p.R774fs

c.2320_2321fs

1 paper

NM_001350532.2

p.E773_N774delFs

c.2319_2322del4

1 paper

NM_001350532.2

p.N774delFs

c.2322delG

1 paper

NM_153816.6

p.E752K

c.2254G>A