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.G476_G477insFs

c.1428_1429ins22

Surrounding Variants

1 paper

NM_006363.6

p.P474S

c.1420C>T

1 paper

NM_006363.6

p.G479E

c.1436G>A

1 paper

NM_006363.6

p.P472L

c.1415C>T

1 paper

NM_006363.6

p.P472S

c.1414C>T

1 paper

NM_006363.6

p.T471T

c.1413C>G

3 papers

NM_006363.6

p.Q482R

c.1445A>G

1 paper

NM_006363.6

p.N470D

c.1408A>G

3 papers

NM_006363.6

p.T485A

c.1453A>G

1 paper

NM_006363.6

p.T485M

c.1454C>T

1 paper

NM_006363.6

p.Q468_H469Splc

c.1405-7C>T

1 paper

NM_006363.6

p.Q488*

c.1462C>T

14 papers

NM_006363.6

p.H489Q

c.1467C>A