Varaico: Literature-Extracted Genetic Variants

Gene:SEC22B
Variant:p.I148L

SEC22B

37 papers

RefSeq Summary

The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. T...

Pfam Domains

Longinaa 37–117UCSCRegulated-SNARE-like domain
Synaptobrevinaa 134–214UCSCSynaptobrevin

Gene Aliases

HGNC Name

SEC22 homolog B, vesicle trafficking protein

HGNC Previous Symbol

SEC22L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_004892.6
p.I148L
c.442A>C
Surrounding Variants
1 paper
NM_004892.6
p.V150V
c.450G>C
1 paper
NM_004892.6
p.A151T
c.451G>A
1 paper
NM_004892.6
p.A151G
c.452C>G
1 paper
NM_004892.6
p.L142W
c.425T>G
1 paper
NM_004892.6
p.S137Y
c.410C>A
5 papers
NM_004892.6
p.R132*
c.394C>T
1 paper
NM_004892.6
p.D116Splc
c.346+1G>A
7 papers
NM_004892.6
p.R108Q
c.323G>A
1 paper
NM_004892.6
p.G100G
c.300A>G
1 paper
NM_004892.6
p.P80delFs
c.240delA
1 paper
NM_004892.6
p.Y71D
c.211T>G
1 paper
NM_004892.6
p.V69M
c.205G>A
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