Varaico: Literature-Extracted Genetic Variants

PKDREJ

112 papers

RefSeq Summary

This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor prote...

Pfam Domains

REJaa 243–712UCSCREJ domain

PLATaa 1232–1344UCSCPLAT/LH2 domain

Polycystin_domaa 1750–1955UCSCPolycystin domain

PKD_channelaa 1956–2178UCSCPolycystin cation channel

Gene Aliases

HGNC Name

polycystin family receptor for egg jelly

HGNC Previous Names

polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like; polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like; polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin); polycystin (PKD) family receptor for egg jelly

Papers

RefSeq ID

Protein change

DNA change

1–12 of 160 variants

4 papers

NM_006071.2

p.M1371T

c.4112T>C