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.Q9Q

c.27G>A

Surrounding Variants

1 paper

NM_006363.6

p.Q10*

c.28C>T

2 papers

NM_006363.6

p.N11D

c.31A>G

3 papers

NM_006363.6

p.E12K

c.34G>A

1 paper

NM_006363.6

p.F7I

c.19T>A

1 paper

NM_006363.6

p.E6*

c.16G>T

45 papers

NM_006363.6

p.R14W

c.40C>T

1 paper

NM_006363.6

p.T3T

c.9A>G

1 paper

NM_006363.6

p.T3S

c.7A>T

1 paper

NM_006363.6

p.M1Fs

c.3delinsTTFs

1 paper

NM_006363.6

p.R18C

c.52C>T

1 paper

NM_006363.6

p.M1V

c.1A>G

10 papers

NM_006363.6

p.R18H

c.53G>A