Varaico: Literature-Extracted Genetic Variants

SEC23B

232 papers

RefSeq Summary

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of...

Pfam Domains

zf-Sec23_Sec24aa 58–98UCSCSec23/Sec24 zinc finger

Sec23_trunkaa 116–374UCSCSec23/Sec24 trunk domain

Sec23_trunkaa 126–392UCSCSec23/Sec24 trunk domain

Sec23_BSaa 403–506UCSCSec23/Sec24 beta-sandwich domain

Sec23_helicalaa 520–619UCSCSec23/Sec24 helical domain

Gelsolinaa 631–720UCSCGelsolin repeat

Gene Aliases

HGNC Name

SEC23 homolog B, COPII component

HGNC Previous Symbol

CDAN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006363.6

p.L163delFs

c.489delG

Surrounding Variants

1 paper

NM_006363.6

p.L163P

c.488T>C

2 papers

NM_006363.6

p.V164M

c.490G>A

9 papers

NM_006363.6

p.V164L

c.490G>C

10 papers

NM_006363.6

p.V164L

c.490G>T

1 paper

NM_006363.6

p.V164fs

c.490_491fs

1 paper

NM_006363.6

p.A162D

c.485C>A

1 paper

NM_006363.6

p.D161A

c.482A>C

3 papers

NM_006363.6

p.G165D

c.494G>A

1 paper

NM_006363.6

p.I167V

c.499A>G

1 paper

NM_006363.6

p.T168I

c.503C>T

1 paper

NM_006363.6

p.L158F

c.472C>T

1 paper

NM_006363.6

p.G170E

c.509G>A