Varaico: Literature-Extracted Genetic Variants

Gene:SEC24B
Variant:p.F682L

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
1 paper
NM_006323.5
p.F682L
c.2044T>C
Surrounding Variants
1 paper
NM_006323.5
p.F682L
c.2046T>A
1 paper
NM_006323.5
p.F682L
c.2046T>G
1 paper
NM_006323.5
p.Q676Q
c.2028A>G
1 paper
NM_006323.5
p.E705K
c.2113G>A
1 paper
NM_006323.5
p.M671V
c.2011A>G
1 paper
NM_006323.5
p.R646_S647insFs
c.1938_1939dupAT
1 paper
NM_006323.5
p.P636S
c.1906C>T
1 paper
NM_006323.5
p.V635Splc
c.1904-1G>T
1 paper
NM_006323.5
p.T716delFs
c.2147delC
1 paper
NM_006323.5
p.N731S
c.2192A>G
1 paper
NM_006323.5
p.V616_S617insFs
c.1848_1849dupAT
1 paper
NM_006323.5
p.L759H
c.2276T>A
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