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.D126delFs

c.377delT

Surrounding Variants

2 papers

NM_153816.6

p.Q122*

c.364C>T

1 paper

NM_153816.6

p.L116_L118del0

c.346_354del9

1 paper

NM_153816.6

p.L118V

c.352C>G

1 paper

NM_153816.6

p.R111*

c.331C>T

1 paper

NM_153816.6

p.K110E

c.328A>G

1 paper

NM_153816.6

p.Q92*

c.274C>T

1 paper

NM_153816.6

p.Q88*

c.262C>T

1 paper

NM_153816.6

p.L74F

c.220C>T

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.Y153*

c.459C>A

1 paper

NM_153816.6

p.R154Splc

c.462-589A>G