Varaico: Literature-Extracted Genetic Variants

Gene:SEC24A
Variant:p.P469L

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
4 papers
NM_021982.3
p.P469L
c.1406C>T
Surrounding Variants
1 paper
NM_021982.3
p.T471S
c.1411A>T
1 paper
NM_021982.3
p.T471S
c.1412C>G
1 paper
NM_021982.3
p.P462S
c.1384C>T
1 paper
NM_021982.3
p.P493L
c.1478C>T
1 paper
NM_021982.3
p.M497_L498Splc
c.1492-1G>T
1 paper
NM_021982.3
p.S551I
c.1652G>T
1 paper
NM_021982.3
p.E560*
c.1678G>T
1 paper
NM_021982.3
p.P565L
c.1694C>T
1 paper
NM_021982.3
p.Q397K
c.1189C>A
1 paper
NM_021982.3
p.T396M
c.1187C>T
1 paper
NM_021982.3
p.Q377*
c.1129C>T
1 paper
NM_021982.3
p.P361S
c.1081C>T
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