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.R495C

c.1483C>T

Surrounding Variants

3 papers

NM_006363.6

p.R495H

c.1484G>A

18 papers

NM_006363.6

p.R497C

c.1489C>T

1 paper

NM_006363.6

p.T492I

c.1475C>T

14 papers

NM_006363.6

p.H489Q

c.1467C>A

14 papers

NM_006363.6

p.H489Q

c.1467C>G

1 paper

NM_006363.6

p.Q488*

c.1462C>T

1 paper

NM_006363.6

p.A502P

c.1504G>C

3 papers

NM_006363.6

p.R503*

c.1507C>T

5 papers

NM_006363.6

p.R503Q

c.1508G>A

1 paper

NM_006363.6

p.T485M

c.1454C>T

3 papers

NM_006363.6

p.T485A

c.1453A>G

3 papers

NM_006363.6

p.Q482R

c.1445A>G