Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.W83delFs

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
1 paper
NM_006364.4
p.W83delFs
c.249delC
Surrounding Variants
1 paper
NM_006364.4
p.A84fs
c.250_251fs
1 paper
NM_006364.4
p.A84fs
c.250_251fs
1 paper
NM_006364.4
p.W83G
c.247T>G
3 papers
NM_006364.4
p.R79*
c.235C>T
1 paper
NM_006364.4
p.D77G
c.230A>G
1 paper
NM_006364.4
p.C74Y
c.221G>A
2 papers
NM_006364.4
p.Q93_F94Splc
c.279+3A>G
1 paper
NM_006364.4
p.Q93_F94Splc
c.279+5G>A
2 papers
NM_006364.4
p.G100V
c.299G>T
1 paper
NM_006364.4
p.I101L
c.301A>T
3 papers
NM_006364.4
p.E109K
c.325G>A
1 paper
NM_006364.4
p.F114Y
c.341T>A
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