Varaico: Literature-Extracted Genetic Variants

Gene:SEC24A
Variant:p.S945R

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.S945R
c.2833A>C
Surrounding Variants
1 paper
NM_021982.3
p.S945R
c.2835T>A
1 paper
NM_021982.3
p.S945R
c.2835T>G
1 paper
NM_021982.3
p.P944S
c.2830C>T
1 paper
NM_021982.3
p.H943Y
c.2827C>T
1 paper
NM_021982.3
p.D950Y
c.2848G>T
1 paper
NM_021982.3
p.R923H
c.2768G>A
1 paper
NM_021982.3
p.R923C
c.2767C>T
1 paper
NM_021982.3
p.R919G
c.2755C>G
1 paper
NM_021982.3
p.M986_D987ins1
c.2958_2959insATA
1 paper
NM_021982.3
p.V996F
c.2986G>T
1 paper
NM_021982.3
p.Q1002E
c.3004C>G
1 paper
NM_021982.3
p.S1006G
c.3016A>G
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