Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.W313*

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
3 papers
NM_006364.4
p.W313*
c.938G>A
Surrounding Variants
1 paper
NM_006364.4
p.D317G
c.950A>G
1 paper
NM_006364.4
p.G292D
c.875G>A
1 paper
NM_006364.4
p.N281delFs
c.841delT
1 paper
NM_006364.4
p.T278A
c.832A>G
1 paper
NM_006364.4
p.T341A
c.1021A>G
1 paper
NM_006364.4
p.Y348S
c.1043A>C
1 paper
NM_006364.4
p.K361N
c.1083A>T
1 paper
NM_006364.4
p.K361N
c.1083A>C
17 papers
NM_006364.4
p.F382L
c.1144T>C
17 papers
NM_006364.4
p.F382L
c.1146C>G
17 papers
NM_006364.4
p.F382L
c.1146C>A
1 paper
NM_006364.4
p.K392E
c.1174A>G
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