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.P542L

c.1625C>T

Surrounding Variants

1 paper

NM_006363.6

p.D543N

c.1627G>A

4 papers

NM_006363.6

p.R546W

c.1636C>T

1 paper

NM_006363.6

p.A536G

c.1607C>G

1 paper

NM_006363.6

p.A536_E537ins4

c.1606_1610ins12

1 paper

NM_006363.6

p.R550_L552delFs

c.1648_1654del7

9 papers

NM_006363.6

p.R535*

c.1603C>T

15 papers

NM_006363.6

p.R550*

c.1648C>T

2 papers

NM_006363.6

p.R535del1

c.1603_1604delCGA

1 paper

NM_006363.6

p.R550Q

c.1649G>A

2 papers

NM_006363.6

p.R535delFs

c.1603delC

1 paper

NM_006363.6

p.V533G

c.1598T>G

4 papers

NM_006363.6

p.L552F

c.1654C>T