Varaico: Literature-Extracted Genetic Variants

SEC23A

103 papers

RefSeq Summary

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic retic...

Pfam Domains

zf-Sec23_Sec24aa 58–98UCSCSec23/Sec24 zinc finger

Sec23_trunkaa 126–390UCSCSec23/Sec24 trunk domain

Sec23_BSaa 401–504UCSCSec23/Sec24 beta-sandwich domain

Sec23_helicalaa 518–617UCSCSec23/Sec24 helical domain

Gelsolinaa 629–718UCSCGelsolin repeat

Gene Aliases

HGNC Name

SEC23 homolog A, COPII component

HGNC Previous Names

SEC23 homolog A, COPII coat complex component; Sec23 (S. cerevisiae) homolog A; Sec23 homolog A (S. cerevisiae); Sec23 homolog A, COPII coat complex component

Papers

RefSeq ID

Protein change

DNA change

1–12 of 146 variants

17 papers

NM_006364.4

p.F382L

c.1144T>C

17 papers

NM_006364.4

p.F382L