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

5 papers

NM_153816.6

p.C890*

c.2670T>A

Surrounding Variants

4 papers

NM_153816.6

p.C890delFs

c.2670delA

1 paper

NM_153816.6

p.G892D

c.2675G>A

1 paper

NM_153816.6

p.R901K

c.2702G>A

2 papers

NM_153816.6

p.Q908*

c.2722C>T

1 paper

NM_153816.6

p.Q915L

c.2744A>T

1 paper

NM_153816.6

p.Q915_L916Splc

c.2746-2A>G

3 papers

NM_153816.6

p.D922_V924delFs

c.2764_2770del7

1 paper

NM_153816.6

p.T940I

c.2819C>T

1 paper

NM_153816.6

p.D885Splc

c.2653+1G>A

3 papers

NM_153816.6

p.Q866*

c.2596C>T

1 paper

NM_153816.6

p.T822I

c.2465C>T

1 paper

NM_153816.6

p.V804I

c.2410G>A