Varaico: Literature-Extracted Genetic Variants

Gene:SEC24A
Variant:p.P361S

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.P361S
c.1081C>T
Surrounding Variants
1 paper
NM_021982.3
p.Q355Q
c.1065A>G
1 paper
NM_021982.3
p.Q377*
c.1129C>T
1 paper
NM_021982.3
p.Q344fs
c.1030_1031fs
1 paper
NM_021982.3
p.Q344delFs
c.1030delC
1 paper
NM_021982.3
p.P318T
c.952C>A
2 papers
NM_021982.3
p.P305A
c.913C>G
1 paper
NM_021982.3
p.L295_T303del0
c.885_908del24
1 paper
NM_021982.3
p.Q276L
c.827A>T
1 paper
NM_021982.3
p.T396M
c.1187C>T
1 paper
NM_021982.3
p.Q397K
c.1189C>A
1 paper
NM_021982.3
p.E267G
c.800A>G
1 paper
NM_021982.3
p.Y263_D264del1
c.788_790delACG
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