Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.F382L

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
17 papers
NM_006364.4
p.F382L
c.1146C>A
Surrounding Variants
17 papers
NM_006364.4
p.F382L
c.1146C>G
17 papers
NM_006364.4
p.F382L
c.1144T>C
1 paper
NM_006364.4
p.K392E
c.1174A>G
3 papers
NM_006364.4
p.M400I
c.1200G>T
3 papers
NM_006364.4
p.M400I
c.1200G>C
3 papers
NM_006364.4
p.M400I
c.1200G>A
1 paper
NM_006364.4
p.G403insFs
c.1208_1209insC
1 paper
NM_006364.4
p.T405M
c.1214C>T
1 paper
NM_006364.4
p.K415N
c.1245G>T
1 paper
NM_006364.4
p.K415N
c.1245G>C
1 paper
NM_006364.4
p.G418R
c.1252G>C
1 paper
NM_006364.4
p.G418R
c.1252G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."