Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.P52L

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
Selected Variant
4 papers
NM_006364.4
p.P52L
c.155C>T
Surrounding Variants
1 paper
NM_006364.4
p.P49L
c.146C>T
1 paper
NM_006364.4
p.Y56*
c.168T>A
1 paper
NM_006364.4
p.L60M
c.178C>A
1 paper
NM_006364.4
p.L41P
c.122T>C
1 paper
NM_006364.4
p.C66Y
c.197G>A
2 papers
NM_006364.4
p.R67C
c.199C>T
1 paper
NM_006364.4
p.V35delFs
c.103delC
1 paper
NM_006364.4
p.N71H
c.211A>C
1 paper
NM_006364.4
p.A31_R33delFs
c.91_97del7
2 papers
NM_006364.4
p.C74Y
c.221G>A
1 paper
NM_006364.4
p.P25Q
c.74C>A
1 paper
NM_006364.4
p.W24*
c.72G>A
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