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.Q468*

c.1402C>T

Surrounding Variants

1 paper

NM_006363.6

p.Q468_H469Splc

c.1404+1G>A

1 paper

NM_006363.6

p.Q468_H469Splc

c.1404+5G>A

17 papers

NM_006363.6

p.Y462C

c.1385A>G

1 paper

NM_006363.6

p.P455H

c.1364C>A

1 paper

NM_006363.6

p.L453P

c.1358T>C

3 papers

NM_006363.6

p.C451F

c.1352G>T

1 paper

NM_006363.6

p.T445R

c.1334C>G

1 paper

NM_006363.6

p.G443C

c.1327G>T

2 papers

NM_006363.6

p.G443_S446del0

c.1327_1338del12

5 papers

NM_006363.6

p.S436L

c.1307C>T

1 paper

NM_006363.6

p.P433R

c.1298C>G

6 papers

NM_006363.6

p.P433L

c.1298C>T