Varaico: Literature-Extracted Genetic Variants

Gene:SEC24B
Variant:p.I275L

SEC24B

68 papers

RefSeq Summary

The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component ...

Pfam Domains

zf-Sec23_Sec24aa 602–639UCSCSec23/Sec24 zinc finger
Sec23_trunkaa 675–914UCSCSec23/Sec24 trunk domain
Sec23_BSaa 919–1003UCSCSec23/Sec24 beta-sandwich domain
Sec23_helicalaa 1014–1115UCSCSec23/Sec24 helical domain
Gelsolinaa 1139–1214UCSCGelsolin repeat

Gene Aliases

HGNC Name

SEC24 homolog B, COPII component

HGNC Previous Names

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

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006323.5
p.I275L
c.823A>C
Surrounding Variants
1 paper
NM_006323.5
p.P289R
c.866C>G
1 paper
NM_006323.5
p.P289L
c.866C>T
1 paper
NM_006323.5
p.I234T
c.701T>C
2 papers
NM_006323.5
p.F227S
c.680T>C
2 papers
NM_006323.5
p.P177P
c.531C>T
1 paper
NM_006323.5
p.A172V
c.515C>T
1 paper
NM_006323.5
p.T146M
c.437C>T
1 paper
NM_006323.5
p.G132E
c.395G>A
1 paper
NM_006323.5
p.P67S
c.199C>T
1 paper
NM_006323.5
p.Q52R
c.155A>G
1 paper
NM_006323.5
p.P307S
c.919C>T
1 paper
NM_006323.5
p.S325S
c.975A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."