Varaico: Literature-Extracted Genetic Variants

Gene:SEC23A
Variant:p.M702V

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
15 papers
NM_006364.4
p.M702V
c.2104A>G
Surrounding Variants
1 paper
NM_006364.4
p.P688L
c.2063C>T
1 paper
NM_006364.4
p.R682C
c.2044C>T
1 paper
NM_006364.4
p.I664V
c.1990A>G
1 paper
NM_006364.4
p.R716C
c.2146C>T
1 paper
NM_006364.4
p.T727I
c.2180C>T
1 paper
NM_006364.4
p.A733_G735del3
c.2197_2204del9
1 paper
NM_006364.4
p.I656M
c.1968T>G
2 papers
NM_006364.4
p.L649P
c.1946T>C
1 paper
NM_006364.4
p.L637P
c.1910T>C
1 paper
NM_006364.4
p.L636F
c.1906C>T
1 paper
NM_006364.4
p.E633_P634Splc
c.1900-5G>A
1 paper
NM_006364.4
p.S627C
c.1880C>G
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