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

1–12 of 120 variants

7 papers

NM_153816.6

p.R378*

c.1132C>T

5 papers

NM_153816.6

p.C890*

c.2670T>A

4 papers

NM_153816.6

p.E216fs

c.646_647fs

4 papers

NM_153816.6

p.C890delFs

c.2670delA

3 papers

NM_153816.6

p.L143*

c.428T>G

3 papers

NM_153816.6

p.L143*

c.428T>A

3 papers

NM_153816.6

p.S303R

c.907A>C

3 papers

NM_153816.6

p.K395fs

c.1183_1184fs

3 papers

NM_153816.6

p.Q394delFs

c.1182delC

3 papers

NM_153816.6

p.G632Splc

c.1894+1G>T

3 papers

NM_153816.6

p.Q866*

c.2596C>T

3 papers

NM_153816.6

p.D922_V924delFs

c.2764_2770del7