Varaico: Literature-Extracted Genetic Variants

Gene:SEC22B
Variant:p.F203L

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
1 paper
NM_004892.6
p.F203L
c.609C>A
Surrounding Variants
1 paper
NM_004892.6
p.F203L
c.609C>G
1 paper
NM_004892.6
p.F203L
c.607T>C
2 papers
NM_004892.6
p.W214C
c.642G>T
2 papers
NM_004892.6
p.W214C
c.642G>C
3 papers
NM_004892.6
p.T192P
c.574A>C
2 papers
NM_004892.6
p.A184V
c.551C>T
1 paper
NM_004892.6
p.R181H
c.542G>A
1 paper
NM_004892.6
p.A151G
c.452C>G
1 paper
NM_004892.6
p.A151T
c.451G>A
1 paper
NM_004892.6
p.V150V
c.450G>C
4 papers
NM_004892.6
p.I148L
c.442A>C
1 paper
NM_004892.6
p.L142W
c.425T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."