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

6 papers

NM_006363.6

p.R401*

c.1201C>T

Surrounding Variants

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

2 papers

NM_006363.6

p.A403insFs

c.1208dupC

1 paper

NM_006363.6

p.K394R

c.1181A>G

2 papers

NM_006363.6

p.K411_T412Splc

c.1233+4C>T

2 papers

NM_006363.6

p.F388I

c.1162T>A

1 paper

NM_006363.6

p.T387I

c.1160C>T

4 papers

NM_006363.6

p.Q386R

c.1157A>G

1 paper

NM_006363.6

p.Q386L

c.1157A>T

1 paper

NM_006363.6

p.T381I

c.1142C>T

1 paper

NM_006363.6

p.F379L

c.1137C>A