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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEC22B

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 26 variants

7 papers

chr1:120163233 C>T

NM_004892.6

p.R108Q

c.323G>A

Longin

Exome: 0.0% (AC=4, hom=0)Genome: n/a245 overlapping SVs

5 papers

chr1:120160483 G>A

NM_004892.6

p.R132*

c.394C>T

Exome: 0.0% (AC=5, hom=0)Genome: n/a244 overlapping SVs

4 papers

chr1:120160435 T>G

NM_004892.6

p.I148L

c.442A>C

Synaptobrevin

exact variant not in gnomAD244 overlapping SVs

3 papers

chr1:120157112 T>G

NM_004892.6

p.T192P

c.574A>C

Synaptobrevin

Exome: 5.7% (AC=78332, hom=0)Genome: 1.6% (AC=2129, hom=0)243 overlapping SVs

2 papers

chr1:120157135 G>A

NM_004892.6

p.A184V

c.551C>T

Synaptobrevin

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=0, hom=0)243 overlapping SVs

2 papers

chr1:120157044 C>A

NM_004892.6

p.W214C

c.642G>T

Synaptobrevin

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=50, hom=0)243 overlapping SVs

2 papers

chr1:120157044 C>G

NM_004892.6

p.W214C

c.642G>C

Synaptobrevin

exact variant not in gnomAD243 overlapping SVs

1 paper

chr1:120176356 C>A

NM_004892.6

p.R9L

c.26G>T

exact variant not in gnomAD244 overlapping SVs

1 paper

chr1:120168942 C>T

NM_004892.6

p.R28Q

c.83G>A

Exome: 0.0% (AC=53, hom=1)Genome: 0.0% (AC=5, hom=0)244 overlapping SVs

1 paper

chr1:120168929 T>C

NM_004892.6

p.Q32Q

c.96A>G

Exome: 27.0% (AC=269249, hom=39822)Genome: 45.2% (AC=63538, hom=17452)244 overlapping SVs

1 paper

chr1:120168901 G>C

NM_004892.6

p.R42G

c.124C>G

Longin

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)244 overlapping SVs

1 paper

chr1:120168874 T>A

NM_004892.6

p.R51*

c.151A>T

Longin

Exome: 0.0% (AC=0, hom=0)Genome: n/a244 overlapping SVs

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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."