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.N561N

c.1683C>T

Surrounding Variants

1 paper

NM_153816.6

p.E545A

c.1634A>C

1 paper

NM_153816.6

p.E531delFs

c.1591delC

1 paper

NM_153816.6

p.G521R

c.1561G>C

1 paper

NM_153816.6

p.G521R

c.1561G>A

1 paper

NM_153816.6

p.S508S

c.1524C>T

1 paper

NM_153816.6

p.R505insFs

c.1513dupA

1 paper

NM_153816.6

p.R505fs

c.1513_1514fs

1 paper

NM_001350532.2

p.K647_L648del2

c.1939_1943del6

3 papers

NM_153816.6

p.G632Splc

c.1894+1G>T

1 paper

NM_153816.6

p.G632Splc

c.1894+1G>A

1 paper

NM_153816.6

p.I645F

c.1933A>T

1 paper

NM_153816.6

p.P647_K648del2

c.1939_1943del6