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

1 paper

NM_006363.6

p.R48S

c.142C>A

Surrounding Variants

1 paper

NM_006363.6

p.D50G

c.149A>G

1 paper

NM_006363.6

p.L45F

c.135G>C

1 paper

NM_006363.6

p.L45F

c.135G>T

1 paper

NM_006363.6

p.P52S

c.154C>T

1 paper

NM_006363.6

p.P52L

c.155C>T

1 paper

NM_006363.6

p.L41P

c.122T>C

1 paper

NM_006363.6

p.Y56C

c.167A>G

1 paper

NM_006363.6

p.Y56*

c.168T>A

1 paper

NM_006363.6

p.P58S

c.172C>T

1 paper

NM_006363.6

p.V35delFs

c.103delG

4 papers

NM_006363.6

p.C66Y

c.197G>A

1 paper

NM_006363.6

p.R28W

c.82C>T