Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.L211V

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
10 papers
NM_006364.4
p.L211V
c.631C>G
Surrounding Variants
1 paper
NM_006364.4
p.L211I
c.631C>A
1 paper
NM_006364.4
p.T215A
c.643A>G
1 paper
NM_006364.4
p.P225S
c.673C>T
1 paper
NM_006364.4
p.S226A
c.676T>G
1 paper
NM_006364.4
p.F229S
c.686T>C
2 papers
NM_006364.4
p.D237A
c.710A>C
1 paper
NM_006364.4
p.N239Y
c.715A>T
2 papers
NM_006364.4
p.N239S
c.716A>G
1 paper
NM_006364.4
p.T241A
c.721A>G
1 paper
NM_006364.4
p.D242V
c.725A>T
1 paper
NM_006364.4
p.G245del1
c.733_735delTCC
1 paper
NM_006364.4
p.V254E
c.761T>A
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