Varaico: Literature-Extracted Genetic Variants

Gene:SEC24B
Variant:p.S1032L

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.S1032L
c.3095C>T
Surrounding Variants
1 paper
NM_006323.5
p.L1035V
c.3103C>G
1 paper
NM_006323.5
p.V1057A
c.3170T>C
1 paper
NM_006323.5
p.K1072E
c.3214A>G
1 paper
NM_006323.5
p.R1094W
c.3280C>T
1 paper
NM_006323.5
p.K1106E
c.3316A>G
1 paper
NM_006323.5
p.G1131C
c.3391G>T
1 paper
NM_006323.5
p.D1137Y
c.3409G>T
1 paper
NM_006323.5
p.C1020_L1021insFs
c.3060_3061ins7
1 paper
NM_006323.5
p.L1000V
c.2998T>G
1 paper
NM_006323.5
p.L975F
c.2925A>C
1 paper
NM_006323.5
p.L975F
c.2925A>T
1 paper
NM_006323.5
p.Q963K
c.2887C>A
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