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

1 paper

NM_153816.6

p.F350L

c.1050T>G

Surrounding Variants

1 paper

NM_153816.6

p.F350L

c.1050T>A

1 paper

NM_153816.6

p.F350L

c.1048T>C

1 paper

NM_153816.6

p.R349C

c.1045C>T

1 paper

NM_153816.6

p.L346_L354del9

c.1036_1061del27

1 paper

NM_153816.6

p.G358G

c.1074C>T

2 papers

NM_153816.6

p.E370*

c.1108G>T

2 papers

NM_153816.6

p.E370K

c.1108G>A

1 paper

NM_153816.6

p.E370Splc

c.1108+28A>G

1 paper

NM_153816.6

p.P314_R326del0

c.941_976del36

1 paper

NM_153816.6

p.P311L

c.932C>T

2 papers

NM_153816.6

p.P304_P305Splc

c.912+5G>A

2 papers

NM_153816.6

p.S303R

c.909T>G