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

1–12 of 24 variants

4 papers

NM_006855.4

p.V199G

c.596T>G

1 paper

NM_006855.4

p.S11T

c.32G>C

1 paper

NM_006855.4

p.K35_T46del0

c.103_138del36

1 paper

NM_006855.4

p.K35_F40del0

c.105_119del15

1 paper

NM_006855.4

p.S36del1

c.106_108delAGC

1 paper

NM_006855.4

p.I38_T46del0

c.112_138del27

1 paper

NM_006855.4

p.L39_A41delins

c.116_122delinsC

1 paper

NM_006855.4

p.A41_T46del0

c.121_138del18

1 paper

NM_006855.4

p.A41_T45del0

c.123_134del12

1 paper

NM_006855.4

p.A41_T53del0

c.122_157del36

1 paper

NM_006855.4

p.V43_F44del1

c.129_131delCTT

1 paper

NM_006855.4

p.V43_L49del0

c.128_145del18