Varaico: Literature-Extracted Genetic Variants

Gene:SEC24A
Variant:p.Q683E

SEC24A

74 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transpo...

Pfam Domains

zf-Sec23_Sec24aa 428–465UCSCSec23/Sec24 zinc finger
Sec23_trunkaa 501–739UCSCSec23/Sec24 trunk domain
Sec23_BSaa 744–828UCSCSec23/Sec24 beta-sandwich domain
Sec23_helicalaa 839–940UCSCSec23/Sec24 helical domain
Gelsolinaa 964–1039UCSCGelsolin repeat

Gene Aliases

HGNC Name

SEC24 homolog A, COPII component

HGNC Previous Names

SEC24 homolog A, COPII coat complex component; SEC24 (S. cerevisiae) related gene family, member A; SEC24 family, member A (S. cerevisiae); SEC24 family member A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021982.3
p.Q683E
c.2047C>G
Surrounding Variants
1 paper
NM_021982.3
p.L691F
c.2071C>T
1 paper
NM_021982.3
p.G694*
c.2080G>T
1 paper
NM_021982.3
p.A700D
c.2099C>A
1 paper
NM_021982.3
p.G711D
c.2132G>A
1 paper
NM_021982.3
p.R752Q
c.2255G>A
1 paper
NM_021982.3
p.G647G
c.1941A>T
1 paper
NM_021982.3
p.L598I
c.1792T>A
1 paper
NM_021982.3
p.K592T
c.1775A>C
1 paper
NM_021982.3
p.V779I
c.2335G>A
1 paper
NM_021982.3
p.Q788_S790del3
c.2362_2369del9
1 paper
NM_021982.3
p.I843L
c.2527A>C
1 paper
NM_021982.3
p.P565L
c.1694C>T
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