Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.R493C

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
2 papers
NM_006364.4
p.R493C
c.1477C>T
Surrounding Variants
1 paper
NM_006364.4
p.R492*
c.1474A>T
1 paper
NM_006364.4
p.Q480H
c.1440G>T
1 paper
NM_006364.4
p.Q480H
c.1440G>C
1 paper
NM_006364.4
p.R476_G477insFs
c.1428_1429ins22
1 paper
NM_006364.4
p.P472L
c.1415C>T
2 papers
NM_006364.4
p.E462G
c.1385A>G
1 paper
NM_006364.4
p.C449R
c.1345T>C
1 paper
NM_006364.4
p.G442delFs
c.1325delC
1 paper
NM_006364.4
p.V424insFs
c.1270_1271insG
1 paper
NM_006364.4
p.G418R
c.1252G>C
1 paper
NM_006364.4
p.G418R
c.1252G>A
1 paper
NM_006364.4
p.K415N
c.1245G>T
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