Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.I167V

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.I167V
c.499A>G
Surrounding Variants
1 paper
NM_006364.4
p.I167T
c.500T>C
1 paper
NM_006364.4
p.T168A
c.502A>G
1 paper
NM_006364.4
p.G165E
c.494G>A
1 paper
NM_006364.4
p.F169Y
c.506T>A
1 paper
NM_006364.4
p.L163delFs
c.489delC
1 paper
NM_006364.4
p.V164F
c.490G>T
1 paper
NM_006364.4
p.V164L
c.490G>C
1 paper
NM_006364.4
p.G179insFs
c.536_537ins4
1 paper
NM_006364.4
p.S184A
c.550T>G
2 papers
NM_006364.4
p.Y187C
c.560A>G
3 papers
NM_006364.4
p.R190*
c.568A>T
1 paper
NM_006364.4
p.R190K
c.569G>A
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