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.W254R

c.760T>C

Surrounding Variants

1 paper

NM_006363.6

p.V256A

c.767T>C

1 paper

NM_006363.6

p.T257I

c.770C>T

1 paper

NM_006363.6

p.Q250*

c.748C>T

1 paper

NM_006363.6

p.Q258R

c.773A>G

3 papers

NM_006363.6

p.E248K

c.742G>A

1 paper

NM_006363.6

p.L246_G247del2

c.736_740del6

1 paper

NM_006363.6

p.L245del1

c.733_734delCTT

10 papers

NM_006363.6

p.R264*

c.790C>T

1 paper

NM_006363.6

p.R264Q

c.791G>A

1 paper

NM_006363.6

p.S265delFs

c.795delC

13 papers

NM_006363.6

p.D239G

c.716A>G

1 paper

NM_006363.6

p.K237N

c.711G>C