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.P433R

c.1298C>G

Surrounding Variants

6 papers

NM_006363.6

p.P433L

c.1298C>T

5 papers

NM_006363.6

p.S436L

c.1307C>T

8 papers

NM_006363.6

p.V426I

c.1276G>A

1 paper

NM_006363.6

p.P424insFs

c.1270_1271insG

4 papers

NM_006363.6

p.I418M

c.1254T>G

1 paper

NM_006363.6

p.R414W

c.1240C>T

2 papers

NM_006363.6

p.K411_T412Splc

c.1233+4C>T

2 papers

NM_006363.6

p.A403insFs

c.1208dupC

6 papers

NM_006363.6

p.R401*

c.1201C>T

1 paper

NM_006363.6

p.F400L

c.1200C>A

1 paper

NM_006363.6

p.F400L

c.1200C>G

1 paper

NM_006363.6

p.F400L

c.1198T>C