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

2 papers

NM_153816.6

p.T215insFs

c.645dupA

Surrounding Variants

4 papers

NM_001350532.2

p.E237fs

c.709_710fs

NM_153816.6

p.E216fs

c.646_647fs

1 paper

NM_001350532.2

p.E237delFs

c.710_711delCT

NM_153816.6

p.E216delFs

c.647_648delCT

1 paper

NM_153816.6

p.V212fs

c.634_635fs

1 paper

NM_153816.6

p.V212Splc

c.635-3T>G

1 paper

NM_153816.6

p.A233V

c.698C>T

1 paper

NM_153816.6

p.R238*

c.712A>T

1 paper

NM_153816.6

p.R237delFs

c.710_711delTC

1 paper

NM_153816.6

p.L247F

c.739C>T

1 paper

NM_153816.6

p.L247V

c.739C>G

1 paper

NM_153816.6

p.P258S

c.772C>T

1 paper

NM_153816.6

p.K259Q

c.775A>C

2 papers

NM_020468.6

p.K215insFs

c.645dupA