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.I130T

c.389T>C

Surrounding Variants

1 paper

NM_006363.6

p.F131L

c.391T>C

2 papers

NM_006363.6

p.L129delFs

c.387delG

1 paper

NM_006363.6

p.F131L

c.393T>A

1 paper

NM_006363.6

p.F131L

c.393T>G

1 paper

NM_006363.6

p.A125insFs

c.374_375insGA

7 papers

NM_006363.6

p.R123*

c.367C>T

2 papers

NM_006363.6

p.Q122_R123Splc

c.367-1G>A

1 paper

NM_006363.6

p.C138Y

c.413G>A

1 paper

NM_006363.6

p.D142G

c.425A>G

4 papers

NM_006363.6

p.D143Fs

c.428delinsCGFs

1 paper

NM_006363.6

p.Q145R

c.434A>G

1 paper

NM_006363.6

p.L147I

c.439C>A