Varaico: Literature-Extracted Genetic Variants

KDELR3

15 papers

RefSeq Summary

This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in bot...

Pfam Domains

ER_lumen_receptaa 28–169UCSCER lumen protein retaining receptor

Gene Aliases

HGNC Name

KDEL endoplasmic reticulum protein retention receptor 3

HGNC Previous Name

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006855.4

p.Y111_S112delFs

c.333_334delCA

Surrounding Variants

1 paper

NM_006855.4

p.Y111*

c.333C>A

1 paper

NM_006855.4

p.Y111*

c.333C>G

1 paper

NM_006855.4

p.L99delFs

c.296delT

1 paper

NM_006855.4

p.E96V

c.287A>T

1 paper

NM_006855.4

p.Q134R

c.401A>G

1 paper

NM_006855.4

p.I147V

c.439A>G

1 paper

NM_006855.4

p.T148insFs

c.442dupA

1 paper

NM_006855.4

p.V181A

c.542T>C

1 paper

NM_006855.4

p.Y191fs

c.571_572fs

4 papers

NM_006855.4

p.V199G

c.596T>G

1 paper

NM_016657.3

p.G213insFs

c.637dupG

1 paper

NM_006855.4

p.T46_L51del0

c.138_152del15