Varaico: Literature-Extracted Genetic Variants

SNX13

47 papers

RefSeq Summary

This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoino...

Pfam Domains

PXAaa 97–164UCSCPXA domain

PXAaa 97–279UCSCPXA domain

RGSaa 373–512UCSCRegulator of G protein signaling domain

PXaa 599–687UCSCPX domain

Nexin_Caa 803–913UCSCSorting nexin C terminal

Gene Aliases

HGNC Name

sorting nexin 13

HGNC Alias Symbols

RGS-PX1; KIAA0713

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015132.5

p.S111Y

c.332C>A

Surrounding Variants

1 paper

NM_015132.5

p.S124S

c.372C>T

1 paper

NM_015132.5

p.F144Y

c.431T>A

1 paper

NM_015132.5

p.Q105H

c.315G>T

1 paper

NM_015132.5

p.Q105H

c.315G>C

1 paper

NM_015132.5

p.G96D

c.287G>A

1 paper

NM_015132.5

p.R86K

c.257G>A

1 paper

NM_015132.5

p.T47N

c.140C>A

1 paper

NM_015132.5

p.G42Splc

c.125+5G>A