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_001350532.2

p.T456Fs

c.1366delinsAGFs

Surrounding Variants

1 paper

NM_153816.6

p.H445R

c.1334A>G

1 paper

NM_153816.6

p.T399S

c.1195A>T

1 paper

NM_153816.6

p.K395R

c.1184A>G

3 papers

NM_153816.6

p.K395fs

c.1183_1184fs

3 papers

NM_153816.6

p.Q394delFs

c.1182delC

1 paper

NM_153816.6

p.S388A

c.1162T>G

1 paper

NM_153816.6

p.S382A

c.1144T>G

1 paper

NM_153816.6

p.E380insFs

c.1140dupA

8 papers

NM_153816.6

p.R378*

c.1132C>T

NM_001350532.2

p.R399*

c.1195C>T

2 papers

NM_153816.6

p.E370K

c.1108G>A

1 paper

NM_153816.6

p.E370Splc

c.1108+28A>G

2 papers

NM_153816.6

p.E370*

c.1108G>T