Varaico: Literature-Extracted Genetic Variants

Gene:SEC24A
Variant:p.P55delFs

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.P55delFs
c.163delC
Surrounding Variants
1 paper
NM_021982.3
p.P55fs
c.163_164fs
1 paper
NM_021982.3
p.P59T
c.175C>A
1 paper
NM_021982.3
p.P61T
c.181C>A
1 paper
NM_021982.3
p.A38G
c.113C>G
1 paper
NM_021982.3
p.A38T
c.112G>A
1 paper
NM_021982.3
p.N75D
c.223A>G
1 paper
NM_021982.3
p.G81V
c.242G>T
1 paper
NM_021982.3
p.R88delFs
c.263_264delGA
1 paper
NM_021982.3
p.A117S
c.349G>T
1 paper
NM_021982.3
p.W138R
c.412T>A
1 paper
NM_021982.3
p.W138R
c.412T>C
2 papers
NM_021982.3
p.Y142*
c.426T>A
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