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.H182R

c.545A>G

Surrounding Variants

1 paper

NM_153816.6

p.K183K

c.549G>A

1 paper

NM_153816.6

p.F173insFs

c.519dupT

1 paper

NM_153816.6

p.R171H

c.512G>A

1 paper

NM_153816.6

p.R171C

c.511C>T

1 paper

NM_153816.6

p.L170V

c.508T>G

1 paper

NM_153816.6

p.V163A

c.488T>C

1 paper

NM_153816.6

p.D155fs

c.463_464fs

1 paper

NM_153816.6

p.R154Splc

c.462-589A>G

1 paper

NM_153816.6

p.Y153*

c.459C>A

3 papers

NM_153816.6

p.L143*

c.428T>G

3 papers

NM_153816.6

p.L143*

c.428T>A

1 paper

NM_153816.6

p.D126delFs

c.377delT