Varaico: Literature-Extracted Genetic Variants

SEC63

126 papers

RefSeq Summary

The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associa...

Pfam Domains

DnaJaa 104–162UCSCDnaJ domain

Sec63aa 222–499UCSCSec63 Brl domain

Sec63aa 612–713UCSCSec63 Brl domain

Gene Aliases

HGNC Name

SEC63 protein translocation regulator

HGNC Alias Symbols

SEC63L; PRO2507; ERdj2; DNAJC23

Papers

RefSeq ID

Protein change

DNA change

1–12 of 137 variants

6 papers

NM_007214.5

p.K535insFs

c.1605dupA

6 papers

NM_007214.5

p.K535delFs

c.1605delT

5 papers

NM_007214.5

p.G3ins1

c.8_9insTTT

5 papers

NM_007214.5

p.E568del1

c.1702_1703delTTC

4 papers

NM_007214.5

p.W58*

c.173G>A

4 papers

NM_007214.5

p.W58*

c.174G>A

4 papers

NM_007214.5

p.K535fs

c.1603_1604fs

3 papers

NM_007214.5

p.G3insFs

c.8_9insTT

3 papers

NM_007214.5

p.R239*

c.715C>T

3 papers

NM_007214.5

p.R245Splc

c.733+1G>A

3 papers

NM_007214.5

p.K535fs

c.1603_1604fs

3 papers

NM_007214.5

p.P536fs

c.1606_1607fs