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.L206P

c.617T>C

Surrounding Variants

1 paper

NM_006363.6

p.L206R

c.617T>G

5 papers

NM_006363.6

p.Q214*

c.640C>T

19 papers

NM_006363.6

p.R217*

c.649C>T

2 papers

NM_006363.6

p.Q222_P225del4

c.664_674del12

15 papers

NM_006363.6

p.R230Splc

c.689+1G>A

2 papers

NM_006363.6

p.R230Splc

c.689+1G>C

2 papers

NM_006363.6

p.Q199*

c.595C>T

1 paper

NM_006363.6

p.Q199_I200delFs

c.597_598delAA

1 paper

NM_006363.6

p.L195insFs

c.584dupT

1 paper

NM_006363.6

p.D194N

c.580G>A

1 paper

NM_006363.6

p.T192delFs

c.576delC

2 papers

NM_006363.6

p.R190Q

c.569G>A